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

2 papers

NM_002885.4

p.T183A

c.547A>G

Surrounding Variants

1 paper

NM_002885.4

p.Y199insFs

c.595_596insC

1 paper

NM_001145658.3

p.Y263C

c.788A>G

1 paper

NM_002885.4

p.Q200*

c.598C>T

1 paper

NM_002885.4

p.L202F

c.604C>T

1 paper

NM_002885.4

p.E207A

c.620A>C

1 paper

NM_002885.4

p.E222insFs

c.666dupG

1 paper

NM_002885.4

p.G241E

c.722G>A

1 paper

NM_002885.4

p.V245M

c.733G>A

1 paper

NM_002885.4

p.T250S

c.748A>T

1 paper

NM_002885.4

p.T250A

c.748A>G

1 paper

NM_002885.4

p.C257R

c.769T>C

1 paper

NM_002885.4

p.K158insFs

c.474dupG