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

2 papers

NM_001346249.2

p.N501delFs

c.1502delT

Surrounding Variants

1 paper

NM_001346249.2

p.N501fs

c.1501_1502fs

1 paper

NM_001346249.2

p.W498C

c.1494G>T

1 paper

NM_001346249.2

p.A507S

c.1519G>T

1 paper

NM_001346249.2

p.A511T

c.1531G>A

1 paper

NM_001346249.2

p.H471insFs

c.1411_1412ins5

1 paper

NM_001346249.2

p.D470_H471insFs

c.1410_1411ins5

1 paper

NM_001346249.2

p.T469A

c.1405A>G

1 paper

NM_001346249.2

p.V468insFs

c.1402_1403ins5

1 paper

NM_001346249.2

p.N467_V468insFs

c.1401_1402ins5

1 paper

NM_001346249.2

p.N467insFs

c.1400_1401ins5

1 paper

NM_001346249.2

p.I465T

c.1394T>C

1 paper

NM_001346249.2

p.C464S

c.1390T>A