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.P13L

c.38C>T

Surrounding Variants

1 paper

NM_013401.4

p.P13_P14insFs

c.39_40ins4

1 paper

NM_013401.4

p.D9V

c.26A>T

1 paper

NM_013401.4

p.V21I

c.61G>A

1 paper

NM_013401.4

p.S25N

c.74G>A

1 paper

NM_013401.4

p.T26A

c.76A>G

1 paper

NM_013401.4

p.T26P

c.76A>C

1 paper

NM_013401.4

p.L39_V40ins4

c.115_119ins12

2 papers

NM_013401.4

p.Q49R

c.146A>G

1 paper

NM_013401.4

p.G50C

c.148G>T

1 paper

NM_013401.4

p.R63H

c.188G>A

1 paper

NM_013401.4

p.Q87Q

c.261G>A

1 paper

NM_013401.4

p.E96G

c.287A>G