Varaico: Literature-Extracted Genetic Variants

RALGAPA1

80 papers

RefSeq Summary

This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in s...

Pfam Domains

RALGAPA1_Naa 2–235UCSCRALGAPA1 N-terminal domain

RALGAPB_Naa 550–680UCSCRALGAPB N-terminal domain

Rap_GAPaa 1825–2003UCSCRap/ran-GAP

Gene Aliases

HGNC Name

Ral GTPase activating protein catalytic subunit alpha 1

HGNC Previous Symbol

GARNL1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 116 variants

2 papers

NM_001346249.2

p.P297T

c.889C>A

2 papers

NM_001346249.2

p.N501delFs

c.1502delT

2 papers

NM_001346249.2

p.I931V

c.2791A>G

2 papers

NM_001346249.2

p.E1261K

c.3781G>A

1 paper

NM_001346249.2

p.D19N

c.55G>A

1 paper

NM_001346249.2

p.A24T

c.70G>A

1 paper

NM_001346249.2

p.I33_I35Fs

c.98_104delinsTCCFs

1 paper

NM_001346249.2

p.E36D

c.108G>T

1 paper

NM_001346249.2

p.E36D

c.108G>C

1 paper

NM_001346249.2

p.E60Q

c.178G>C

1 paper

NM_001346249.2

p.T64S

c.190A>T

1 paper

NM_001346249.2

p.T64S

c.191C>G