Varaico: Literature-Extracted Genetic Variants

Gene:GATD3

GATD3

41 papers

RefSeq Summary

This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple tr...

Gene Aliases

HGNC Name

glutamine amidotransferase class 1 domain containing 3

HGNC Previous Symbols

C21orf33; GATD3A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
4 papers
NM_004649.8
p.V148M
c.442G>A
3 papers
NM_004649.8
p.V6A
c.17T>C
1 paper
NM_004649.8
p.Q30K
c.88C>A
1 paper
NM_004649.8
p.A32P
c.94G>C
1 paper
NM_004649.8
p.L36I
c.106C>A
1 paper
NM_004649.8
p.P97T
c.289C>A
1 paper
NM_004649.8
p.S102delFs
c.304_305delAG
1 paper
NM_004649.8
p.S102G
c.304A>G
1 paper
NM_004649.8
p.S102R
c.306C>A
1 paper
NM_004649.8
p.E158*
c.472G>T
1 paper
NM_004649.8
p.R161C
c.481C>T
1 paper
NM_004649.8
p.V162del1
c.484_485delGTC
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."