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.T1144I

c.3431C>T

Surrounding Variants

1 paper

NM_001346249.2

p.N1110_R1111ins1

c.3330_3331insCGC

1 paper

NM_001346249.2

p.S1192G

c.3574A>G

1 paper

NM_001346249.2

p.S1253insFs

c.3757_3758insTC

2 papers

NM_001346249.2

p.E1261K

c.3781G>A

1 paper

NM_001346249.2

p.Y1273D

c.3817T>G

1 paper

NM_001346249.2

p.D1303delFs

c.3907delC

1 paper

NM_001346249.2

p.H954R

c.2861A>G

2 papers

NM_001346249.2

p.I931V

c.2791A>G

1 paper

NM_001346249.2

p.S899insFs

c.2695_2696ins5

1 paper

NM_001346249.2

p.E898_S899insFs

c.2694_2695ins5

1 paper

NM_001346249.2

p.E898insFs

c.2693_2694ins5

1 paper

NM_001346249.2

p.H895Y

c.2683C>T