Varaico: Literature-Extracted Genetic Variants

ARFGAP3

58 papers

RefSeq Summary

The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydro...

Pfam Domains

ArfGapaa 10–122UCSCPutative GTPase activating protein for Arf

Gene Aliases

HGNC Name

ARF GTPase activating protein 3

HGNC Previous Names

ADP ribosylation factor GTPase activating protein 3; ADP-ribosylation factor GTPase activating protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014570.5

p.S370G

c.1108A>G

Surrounding Variants

7 papers

NM_014570.5

p.S355R

c.1065T>G

7 papers

NM_014570.5

p.S355R

c.1065T>A

7 papers

NM_014570.5

p.S355R

c.1063A>C

1 paper

NM_014570.5

p.R403H

c.1208G>A

1 paper

NM_014570.5

p.R404H

c.1211G>A

1 paper

NM_014570.5

p.F421C

c.1262T>G

1 paper

NM_014570.5

p.M431T

c.1292T>C

1 paper

NM_014570.5

p.R446H

c.1337G>A

1 paper

NM_014570.5

p.N342S

c.1025A>G

1 paper

NM_014570.5

p.Y341Y

c.1023T>C

1 paper

NM_014570.5

p.S317L

c.950C>T

1 paper

NM_014570.5

p.N311K

c.933T>G