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.E35_V36Splc

c.105+2T>C

Surrounding Variants

1 paper

NM_002885.4

p.L45insFs

c.133dupC

1 paper

NM_002885.4

p.L45fs

c.133_134fs

1 paper

NM_002885.4

p.G58S

c.172G>A

1 paper

NM_002885.4

p.T64S

c.190A>T

1 paper

NM_002885.4

p.R91W

c.271C>T

1 paper

NM_002885.4

p.P19L

c.56C>T

2 papers

NM_002885.4

p.M10T

c.29T>C

1 paper

NM_002885.4

p.M1insFs

c.2_3insA

1 paper

NM_002885.4

p.K97_E98Splc

c.292-1G>A

1 paper

NM_002885.4

p.E98D

c.294G>T

1 paper

NM_002885.4

p.E98D

c.294G>C

5 papers

NM_002885.4

p.A107T

c.319G>A