Varaico: Literature-Extracted Genetic Variants

RAB3IL1

43 papers

RefSeq Summary

This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results...

Pfam Domains

Sec2paa 48–164UCSCGDP/GTP exchange factor Sec2p

RAB3A-like_Caa 218–377UCSCRabin 8-like C-terminal domain

Gene Aliases

HGNC Name

RAB3A interacting protein like 1

HGNC Alias Symbol

GRAB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013401.4

p.A269A

c.807C>G

Surrounding Variants

1 paper

NM_013401.4

p.R268W

c.802C>T

1 paper

NM_013401.4

p.E262_L263Splc

c.787-26C>G

1 paper

NM_013401.4

p.D251E

c.753C>G

1 paper

NM_013401.4

p.D251E

c.753C>A

1 paper

NM_013401.4

p.E245D

c.735A>T

1 paper

NM_013401.4

p.E245D

c.735A>C

1 paper

NM_013401.4

p.L237Q

c.710T>A

1 paper

NM_013401.4

p.E219D

c.657G>T

1 paper

NM_013401.4

p.E219D

c.657G>C

1 paper

NM_013401.4

p.G217S

c.649G>A

1 paper

NM_013401.4

p.P205R

c.614C>G

1 paper

NM_013401.4

p.S190P

c.568T>C