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.K521Q

c.1561A>C

Surrounding Variants

2 papers

NM_002885.4

p.R513S

c.1539G>T

2 papers

NM_002885.4

p.R513S

c.1539G>C

1 paper

NM_002885.4

p.M545delFs

c.1634delA

1 paper

NM_002885.4

p.R497H

c.1490G>A

1 paper

NM_002885.4

p.I476_S477Splc

c.1429-767C>G

1 paper

NM_002885.4

p.I476_S477Splc

c.1429-864C>T

2 papers

NM_002885.4

p.R567C

c.1699C>T

1 paper

NM_001145658.3

p.R631H

c.1892G>A

1 paper

NM_002885.4

p.V595_S596insC

c.1783_1787ins3

1 paper

NM_002885.4

p.K603N

c.1809G>T

1 paper

NM_002885.4

p.K603N

c.1809G>C

4 papers

NM_002885.4

p.Y609C

c.1826A>G