Varaico: Literature-Extracted Genetic Variants

Gene:AGAP4
Variant:p.R517G

AGAP4

37 papers

Pfam Domains

DRICH1-likeaa 1–132UCSCAspartate-rich protein 1-like
ArfGapaa 464–580UCSCPutative GTPase activating protein for Arf
Ank_2aa 591–685UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 4

HGNC Previous Symbols

CTGLF1; AGAP8; CTGLF5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001276343.3
p.R517G
c.1549C>G
Surrounding Variants
3 papers
NM_001276343.3
p.R515H
c.1544G>A
2 papers
NM_001276343.3
p.R507H
c.1520G>A
6 papers
NM_133446.4
p.R484C
c.1450C>T
NM_001276343.3
p.R507C
c.1519C>T
1 paper
NM_001276343.3
p.G504G
c.1512A>T
1 paper
NM_001276343.3
p.D538E
c.1614C>G
1 paper
NM_001276343.3
p.D538E
c.1614C>A
1 paper
NM_001276343.3
p.T559M
c.1676C>T
1 paper
NM_001276343.3
p.R565Q
c.1694G>A
1 paper
NM_001276343.3
p.R568L
c.1703G>T
1 paper
NM_001276343.3
p.K463E
c.1387A>G
1 paper
NM_001276343.3
p.L591L
c.1773G>T
1 paper
NM_001276343.3
p.S440G
c.1318A>G
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