Varaico: Literature-Extracted Genetic Variants

Gene:ARAP3
Variant:p.S280F

ARAP3

135 papers

RefSeq Summary

This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangement...

Pfam Domains

SAM_2aa 4–64UCSCSAM domain (Sterile alpha motif)
PHaa 288–379UCSCPH domain
ArfGapaa 489–607UCSCPutative GTPase activating protein for Arf
RhoGAPaa 920–1068UCSCRhoGAP domain
RAaa 1117–1209UCSCRas association (RalGDS/AF-6) domain
PHaa 1227–1325UCSCPH domain

Gene Aliases

HGNC Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

HGNC Previous Symbol

CENTD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022481.6
p.S280F
c.839C>T
Surrounding Variants
1 paper
NM_022481.6
p.S274L
c.821C>T
1 paper
NM_022481.6
p.T287T
c.861G>T
1 paper
NM_022481.6
p.D271Y
c.811G>T
1 paper
NM_022481.6
p.S269N
c.806G>A
1 paper
NM_022481.6
p.D295N
c.883G>A
1 paper
NM_022481.6
p.G301Splc
c.902+4G>C
1 paper
NM_022481.6
p.G254*
c.760G>T
1 paper
NM_022481.6
p.G301G
c.903A>C
1 paper
NM_022481.6
p.R308H
c.923G>A
2 papers
NM_022481.6
p.M318I
c.954G>T
2 papers
NM_022481.6
p.M318I
c.954G>C
2 papers
NM_022481.6
p.M318I
c.954G>A
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