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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIDT1

SIDT1

74 papers

RefSeq Summary

The protein encoded by this gene belongs to SID1 family of transmembrane dsRNA-gated channels. Family members transport dsRNA into cells and are required for systemic RNA interference. [provided by Re...

Pfam Domains

SID-1_RNA_chanaa 184–827UCSCdsRNA-gated channel SID-1

Gene Aliases

HGNC Name

SID1 transmembrane family member 1

HGNC Alias Symbols

FLJ20174; SID-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 75 variants

5 papers

chr3:113566429 G>A

NM_017699.3

p.V78M

c.232G>A

Exome: 3.5% (AC=51112, hom=1164)Genome: 2.7% (AC=4127, hom=91)71 overlapping SVs

4 papers

chr3:113608479 G>C

NM_017699.3

p.E555Q

c.1663G>C

SID-1_RNA_chan

exact variant not in gnomAD72 overlapping SVs

3 papers

chr3:113567709 C>T

NM_017699.3

p.R172W

c.514C>T

Exome: 0.1% (AC=1505, hom=2)Genome: 0.1% (AC=125, hom=0)71 overlapping SVs

3 papers

chr3:113611092 A>G

NM_017699.3

p.Y602C

c.1805A>G

SID-1_RNA_chan

Exome: 1.0% (AC=15348, hom=99)Genome: 0.7% (AC=1096, hom=7)71 overlapping SVs

2 papers

chr3:113533195 C>T

NM_017699.3

p.L58L

c.174C>T

Exome: 8.4% (AC=118991, hom=5934)Genome: 13.4% (AC=20302, hom=1870)70 overlapping SVs

2 papers

chr3:113566522 C>T

NM_017699.3

p.P109S

c.325C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a71 overlapping SVs

2 papers

chr3:113576963 C>T

NM_017699.3

p.P186L

c.557C>T

SID-1_RNA_chan

exact variant not in gnomAD71 overlapping SVs

2 papers

chr3:113584727 C>T

NM_017699.3

p.R289*

c.865C>T

SID-1_RNA_chan

Exome: 0.0% (AC=475, hom=1)Genome: 0.0% (AC=43, hom=0)71 overlapping SVs

2 papers

chr3:113601630 C>T

NM_017699.3

p.T363I

c.1088C>T

SID-1_RNA_chan

Exome: 8.3% (AC=121818, hom=5808)Genome: 7.0% (AC=10666, hom=500)71 overlapping SVs

2 papers

chr3:113607072 G>A

NM_017699.3

p.C479Y

c.1436G>A

SID-1_RNA_chan

exact variant not in gnomAD72 overlapping SVs

2 papers

chr3:113608492 G>T

NM_017699.3

p.S559I

c.1676G>T

SID-1_RNA_chan

exact variant not in gnomAD72 overlapping SVs

2 papers

chr3:113611064 C>T

NM_017699.3

p.R593C

c.1777C>T

SID-1_RNA_chan

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=5, hom=0)71 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."