Varaico: Literature-Extracted Genetic Variants

Gene:AGAP5
Variant:p.M412V

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
1 paper
NM_001144000.4
p.M412V
c.1234A>G
Surrounding Variants
1 paper
NM_001144000.4
p.V414M
c.1240G>A
1 paper
NM_001144000.4
p.A425T
c.1273G>A
1 paper
NM_001144000.4
p.A425V
c.1274C>T
1 paper
NM_001144000.4
p.R431Q
c.1292G>A
3 papers
NM_001144000.4
p.P391L
c.1172C>T
1 paper
NM_001144000.4
p.S378R
c.1134C>G
1 paper
NM_001144000.4
p.S378R
c.1134C>A
1 paper
NM_001144000.4
p.S378R
c.1132A>C
1 paper
NM_001144000.4
p.N361D
c.1081A>G
1 paper
NM_001144000.4
p.M465V
c.1393A>G
1 paper
NM_001144000.4
p.C352*
c.1056T>A
2 papers
NM_001144000.4
p.S350S
c.1050G>A
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