Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP44
Variant:p.S471*

ARHGAP44

54 papers

Pfam Domains

BARaa 1–242UCSCBAR domain
BARaa 1–242UCSCBAR domain
RhoGAPaa 269–415UCSCRhoGAP domain
RhoGAPaa 269–415UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 44

HGNC Alias Symbols

KIAA0672; RICH-2; RICH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014859.6
p.S471*
c.1412C>A
Surrounding Variants
1 paper
NM_014859.6
p.S471*
c.1412C>G
1 paper
NM_014859.6
p.P479L
c.1436C>T
2 papers
NM_014859.6
p.V463M
c.1387G>A
1 paper
NM_014859.6
p.G458W
c.1372G>T
1 paper
NM_014859.6
p.E486K
c.1456G>A
1 paper
NM_014859.6
p.R490Q
c.1469G>A
1 paper
NM_014859.6
p.F444L
c.1332C>A
1 paper
NM_014859.6
p.F444L
c.1332C>G
1 paper
NM_014859.6
p.F444L
c.1330T>C
1 paper
NM_014859.6
p.M422ins2
c.1264_1265ins6
1 paper
NM_014859.6
p.P413T
c.1237C>A
1 paper
NM_014859.6
p.R379Splc
c.1136+62A>C
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