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.L331R

c.992T>G

Surrounding Variants

1 paper

NM_002885.4

p.A322T

c.964G>A

1 paper

NM_002885.4

p.D291A

c.872A>C

2 papers

NM_002885.4

p.N290K

c.870C>G

2 papers

NM_002885.4

p.N290K

c.870C>A

1 paper

NM_002885.4

p.N290I

c.869A>T

1 paper

NM_002885.4

p.N290D

c.868A>G

1 paper

NM_002885.4

p.R339G

c.1015A>G

1 paper

NM_002885.4

p.L349fs

c.1045_1046fs

1 paper

NM_002885.4

p.P350R

c.1049C>G

1 paper

NM_002885.4

p.D351G

c.1052A>G

1 paper

NM_002885.4

p.A353T

c.1057G>A

1 paper

NM_002885.4

p.V354G

c.1061T>G