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

Selected Variant

1 paper

NM_001346249.2

p.T357A

c.1069A>G

Surrounding Variants

1 paper

NM_001346249.2

p.D352G

c.1055A>G

1 paper

NM_001346249.2

p.P363T

c.1087C>A

1 paper

NM_001346249.2

p.E364*

c.1090G>T

1 paper

NM_001346249.2

p.S366C

c.1097C>G

1 paper

NM_001346249.2

p.T370A

c.1108A>G

1 paper

NM_001346249.2

p.H390Y

c.1168C>T

1 paper

NM_001346249.2

p.P318A

c.952C>G

1 paper

NM_001346249.2

p.S311T

c.931T>A

2 papers

NM_001346249.2

p.P297T

c.889C>A

1 paper

NM_001346249.2

p.N288S

c.863A>G

1 paper

NM_001346249.2

p.F237I

c.709T>A

1 paper

NM_001346249.2

p.K228*

c.682A>T