Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLT8D1

GLT8D1

49 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [...

Pfam Domains

Glyco_transf_8aa 67–340UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glycosyltransferase 8 domain containing 1

HGNC Alias Symbols

AD-017; FLJ14611

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 88 variants

13 papers

chr3:52697776 G>A

NM_018446.4

p.R92C

c.274C>T

Glyco_transf_8

Exome: 0.0% (AC=214, hom=0)Genome: 0.0% (AC=8, hom=0)59 overlapping SVs

7 papers

chr3:52697818 C>A

NM_018446.4

p.G78W

c.232G>T

Glyco_transf_8

Exome: 0.0% (AC=10, hom=0)Genome: n/a59 overlapping SVs

5 papers

chr3:52697841 A>G

NM_018446.4

p.I70T

c.209T>C

Glyco_transf_8

Exome: 0.0% (AC=4, hom=0)Genome: n/a59 overlapping SVs

3 papers

chr3:52697817 C>G

NM_018446.4

p.G78A

c.233G>C

Glyco_transf_8

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=4, hom=0)59 overlapping SVs

3 papers

chr3:52697805 G>T

NM_018446.4

p.A82E

c.245C>A

Glyco_transf_8

Exome: 0.0% (AC=4, hom=0)Genome: n/a59 overlapping SVs

3 papers

chr3:52697790 A>T

NM_018446.4

p.I87N

c.260T>A

Glyco_transf_8

Exome: 0.0% (AC=50, hom=0)Genome: n/a59 overlapping SVs

2 papers

chr3:52697884 G>A

NM_018446.4

p.R56*

c.166C>T

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=4, hom=0)59 overlapping SVs

2 papers

chr3:52696543 G>A

NM_018446.4

p.P149L

c.446C>T

Glyco_transf_8

Exome: 0.0% (AC=14, hom=0)Genome: n/a60 overlapping SVs

2 papers

chr3:52695245 G>C

NM_018446.4

p.I290M

c.870C>G

Glyco_transf_8

exact variant not in gnomAD59 overlapping SVs

2 papers

chr3:52695244 C>T

NM_018446.4

p.V291I

c.871G>A

Glyco_transf_8

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)59 overlapping SVs

2 papers

chr3:52695006 G>C

NM_018446.4

p.Q319E

c.955C>G

Glyco_transf_8

Exome: 0.0% (AC=3, hom=0)Genome: n/a59 overlapping SVs

2 papers

chr3:52694955 A>G

NM_018446.4

p.W336R

c.1006T>C

Glyco_transf_8

Exome: 0.0% (AC=12, hom=0)Genome: n/a59 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."