Varaico: Literature-Extracted Genetic Variants

RAP1GAP

81 papers

RefSeq Summary

This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound f...

Pfam Domains

GoLocoaa 1–17UCSCGoLoco motif

Rap-GAP_dimeraa 86–192UCSCRap/Ran-GAP protein dimerization domain

Rap_GAPaa 210–391UCSCRap/ran-GAP

Gene Aliases

HGNC Name

RAP1 GTPase activating protein

HGNC Previous Symbol

RAP1GA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002885.4

p.D635G

c.1904A>G

Surrounding Variants

1 paper

NM_002885.4

p.G640R

c.1918G>A

1 paper

NM_002885.4

p.C644G

c.1930T>G

1 paper

NM_002885.4

p.G623V

c.1868G>T

1 paper

NM_002885.4

p.T620T

c.1860T>C

4 papers

NM_002885.4

p.Y609C

c.1826A>G

1 paper

NM_002885.4

p.K603N

c.1809G>T

1 paper

NM_002885.4

p.K603N

c.1809G>C

1 paper

NM_002885.4

p.V595_S596insC

c.1783_1787ins3

1 paper

NM_001145658.3

p.R631H

c.1892G>A

2 papers

NM_002885.4

p.R567C

c.1699C>T

1 paper

NM_002885.4

p.M545delFs

c.1634delA

1 paper

NM_002885.4

p.K521Q

c.1561A>C