Varaico: Literature-Extracted Genetic Variants

Gene:AGAP5
Variant:p.R249C

AGAP5

44 papers

Pfam Domains

DRICH1-likeaa 1–134UCSCAspartate-rich protein 1-like
ArfGapaa 464–580UCSCPutative GTPase activating protein for Arf
Ank_2aa 591–684UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 5

HGNC Previous Symbol

CTGLF2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001144000.4
p.R249C
c.745C>T
Surrounding Variants
1 paper
NM_001144000.4
p.H261D
c.781C>G
1 paper
NM_001144000.4
p.S210C
c.628A>T
1 paper
NM_001144000.4
p.L290*
c.869T>G
1 paper
NM_001144000.4
p.L290*
c.869T>A
1 paper
NM_001144000.4
p.R292*
c.874C>T
1 paper
NM_001144000.4
p.K298N
c.894G>T
1 paper
NM_001144000.4
p.K298N
c.894G>C
1 paper
NM_001144000.4
p.K302T
c.905A>C
1 paper
NM_001144000.4
p.N325H
c.973A>C
2 papers
NM_001144000.4
p.S350S
c.1050G>A
1 paper
NM_001144000.4
p.C352*
c.1056T>A
1 paper
NM_001144000.4
p.N361D
c.1081A>G
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