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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL17RD

IL17RD

148 papers

RefSeq Summary

This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the inte...

Pfam Domains

IL17R_D_Naa 48–169UCSCN-terminus of interleukin 17 receptor D

SEFIRaa 356–511UCSCSEFIR domain

Gene Aliases

HGNC Name

interleukin 17 receptor D

HGNC Alias Symbols

SEF; IL17RLM; FLJ35755; IL-17RD

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 224 variants

11 papers

chr3:57106133 G>A

NM_017563.5

p.P191L

c.572C>T

Exome: 0.0% (AC=195, hom=0)Genome: 0.0% (AC=22, hom=0)54 overlapping SVs

8 papers

chr3:57097691 G>A

NM_017563.5

p.S671L

c.2012C>T

Exome: 0.0% (AC=228, hom=5)Genome: 0.0% (AC=21, hom=0)53 overlapping SVs

7 papers

chr3:57110230 T>G

NM_017563.5

p.K131T

c.392A>C

IL17R_D_N

Exome: 0.1% (AC=1735, hom=7)Genome: 0.1% (AC=107, hom=1)53 overlapping SVs

6 papers

chr3:57098007 G>A

NM_017563.5

p.P566S

c.1696C>T

Exome: 1.9% (AC=27323, hom=317)Genome: 1.4% (AC=2116, hom=26)53 overlapping SVs

5 papers

chr3:57102580 G>A

NM_017563.5

p.P293L

c.878C>T

Exome: 0.0% (AC=194, hom=0)Genome: 0.1% (AC=200, hom=0)53 overlapping SVs

4 papers

chr3:57104391 G>A

NM_017563.5

p.T255M

c.764C>T

Exome: 67.7% (AC=981949, hom=341269)Genome: 63.0% (AC=95771, hom=31279)53 overlapping SVs

4 papers

chr3:57101207 T>C

NM_017563.5

p.Y379C

c.1136A>G

SEFIR

Exome: 0.0% (AC=159, hom=0)Genome: 0.0% (AC=9, hom=0)53 overlapping SVs

4 papers

chr3:57098384 C>A

NM_017563.5

p.G440V

c.1319G>T

SEFIR

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=4, hom=0)53 overlapping SVs

4 papers

chr3:57098006 G>A

NM_017563.5

p.P566L

c.1697C>T

Exome: 0.1% (AC=1042, hom=14)Genome: 0.6% (AC=952, hom=14)53 overlapping SVs

3 papers

chr3:57109588 G>A

NM_017563.5

p.P167S

c.499C>T

IL17R_D_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a53 overlapping SVs

3 papers

chr3:57105943 C>T

NM_017563.5

p.A221T

c.661G>A

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=2, hom=0)54 overlapping SVs

3 papers

chr3:57105928 C>T

NM_017563.5

p.G226S

c.676G>A

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=10, hom=0)54 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."