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

1–12 of 83 variants

5 papers

NM_002885.4

p.A107T

c.319G>A

4 papers

NM_002885.4

p.Y609C

c.1826A>G

2 papers

NM_002885.4

p.M10T

c.29T>C

2 papers

NM_002885.4

p.T183A

c.547A>G

2 papers

NM_002885.4

p.N290K

c.870C>G

2 papers

NM_002885.4

p.N290K

c.870C>A

2 papers

NM_002885.4

p.R388P

c.1163G>C

2 papers

NM_002885.4

p.R513S

c.1539G>T

2 papers

NM_002885.4

p.R513S

c.1539G>C

2 papers

NM_002885.4

p.R567C

c.1699C>T

1 paper

NM_002885.4

p.M1insFs

c.2_3insA

1 paper

NM_002885.4

p.P19L

c.56C>T