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.E89_K90Splc

c.267+27C>A

Surrounding Variants

1 paper

NM_001346249.2

p.L85P

c.254T>C

1 paper

NM_001346249.2

p.T64S

c.191C>G

1 paper

NM_001346249.2

p.T64S

c.190A>T

1 paper

NM_001346249.2

p.E60Q

c.178G>C

1 paper

NM_001346249.2

p.E36D

c.108G>T

1 paper

NM_001346249.2

p.E36D

c.108G>C