Varaico: Literature-Extracted Genetic Variants

Gene:GDA
Variant:p.S49S

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.S49S
c.147T>A
Surrounding Variants
1 paper
NM_004293.5
p.S69G
c.205A>G
1 paper
NM_004293.5
p.F73V
c.217T>G
1 paper
NM_004293.5
p.D80H
c.238G>C
1 paper
NM_004293.5
p.H84R
c.251A>G
1 paper
NM_004293.5
p.S86P
c.256T>C
1 paper
NM_004293.5
p.Q87Q
c.261G>A
1 paper
NM_004293.5
p.S93delFs
c.278delG
1 paper
NM_004293.5
p.D96N
c.286G>A
1 paper
NM_004293.5
p.R113I
c.338G>T
1 paper
NM_004293.5
p.D118N
c.352G>A
1 paper
NM_004293.5
p.T125I
c.374C>T
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