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.K158insFs

c.474dupG

Surrounding Variants

1 paper

NM_002885.4

p.K158fs

c.472_473fs

1 paper

NM_002885.4

p.Q155H

c.465G>T

1 paper

NM_002885.4

p.Q155H

c.465G>C

1 paper

NM_002885.4

p.F150I

c.448T>A

1 paper

NM_002885.4

p.C135fs

c.403_404fs

1 paper

NM_002885.4

p.R132Splc

c.395+81C>A

1 paper

NM_002885.4

p.G122V

c.365G>T

1 paper

NM_002885.4

p.Y118F

c.353A>T

5 papers

NM_002885.4

p.A107T

c.319G>A

1 paper

NM_002885.4

p.E98D

c.294G>T

1 paper

NM_002885.4

p.E98D

c.294G>C

1 paper

NM_002885.4

p.K97_E98Splc

c.292-1G>A