Varaico: Literature-Extracted Genetic Variants

Gene:GDA
Variant:p.E186K

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.E186K
c.556G>A
Surrounding Variants
1 paper
NM_004293.5
p.E190K
c.568G>A
1 paper
NM_004293.5
p.K181T
c.542A>C
1 paper
NM_004293.5
p.Y180F
c.539A>T
1 paper
NM_004293.5
p.V169L
c.505G>C
1 paper
NM_004293.5
p.V166L
c.496G>T
1 paper
NM_004293.5
p.D158A
c.473A>C
1 paper
NM_004293.5
p.A154T
c.460G>A
1 paper
NM_004293.5
p.L152R
c.455T>G
1 paper
NM_004293.5
p.L152insFs
c.456dupC
1 paper
NM_004293.5
p.L152delFs
c.456delC
1 paper
NM_004293.5
p.T147A
c.439A>G
1 paper
NM_004293.5
p.A139S
c.415G>T
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