Varaico: Literature-Extracted Genetic Variants

RAG1

625 papers

RefSeq Summary

The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage a...

Pfam Domains

RAG1_imp_bdaa 11–291UCSCRAG1 importin binding

zf-C3HC4aa 293–331UCSCZinc finger, C3HC4 type (RING finger)

zf-RAG1aa 354–383UCSCRecombination-activating protein 1 zinc-finger domain

RAG1aa 390–460UCSCRecombination-activation protein 1 (RAG1) nonamer-binding domain

RAG1_DNA-bdaa 462–520UCSCRecombination-activation protein 1 (RAG1) DNA-binding domain

RAG1_pre-RNase_Haa 521–594UCSCRecombination-activation protein 1 (RAG1) pre-RNase H domain

Gene Aliases

HGNC Name

recombination activating 1

HGNC Alias Symbols

RNF74; MGC43321

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000448.3

p.Y938*

c.2814T>G

Surrounding Variants

3 papers

NM_000448.3

p.Y938*

c.2814T>A

2 papers

NM_000448.3

p.F939L

c.2815T>C

1 paper

NM_000448.3

p.F939S

c.2816T>C

2 papers

NM_000448.3

p.F939C

c.2816T>G

1 paper

NM_000448.3

p.F939L

c.2817T>A

1 paper

NM_000448.3

p.F939L

c.2817T>G

1 paper

NM_000448.3

p.N937H

c.2809A>C

1 paper

NM_000448.3

p.T936A

c.2806A>G

1 paper

NM_000448.3

p.I935M

c.2805C>G

1 paper

NM_000448.3

p.T942I

c.2825C>T

1 paper

NM_000448.3

p.K934E

c.2800A>G

1 paper

NM_000448.3

p.G933G

c.2799A>G