Varaico: Literature-Extracted Genetic Variants

Gene:GDA
Variant:p.G384S

GDA

61 papers

RefSeq Summary

This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding...

Pfam Domains

Amidohydro_1aa 73–447UCSCAmidohydrolase family

Gene Aliases

HGNC Name

guanine deaminase

HGNC Alias Symbols

CYPIN; GAH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004293.5
p.G384S
c.1150G>A
Surrounding Variants
1 paper
NM_004293.5
p.E385D
c.1155G>C
1 paper
NM_004293.5
p.E385D
c.1155G>T
1 paper
NM_004293.5
p.I386F
c.1156A>T
1 paper
NM_004293.5
p.S407A
c.1219T>G
2 papers
NM_004293.5
p.A423S
c.1267G>T
1 paper
NM_004293.5
p.G432delFs
c.1294delG
1 paper
NM_004293.5
p.D434Y
c.1300G>T
1 paper
NM_004293.5
p.A379T
c.1135G>A
1 paper
NM_004293.5
p.I343V
c.1027A>G
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