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

1 paper

NM_000448.3

p.M844T

c.2531T>C

Surrounding Variants

1 paper

NM_000448.3

p.M844I

c.2532G>A

1 paper

NM_000448.3

p.M844I

c.2532G>C

1 paper

NM_000448.3

p.M844I

c.2532G>T

1 paper

NM_000448.3

p.K843M

c.2528A>T

2 papers

NM_000448.3

p.K843E

c.2527A>G

1 paper

NM_000448.3

p.K842E

c.2524A>G

2 papers

NM_000448.3

p.K847E

c.2539A>G

11 papers

NM_000448.3

p.R841Q

c.2522G>A

24 papers

NM_000448.3

p.R841W

c.2521C>T

1 paper

NM_000448.3

p.P848A

c.2542C>G

1 paper

NM_000448.3

p.H839Q

c.2517T>A

1 paper

NM_000448.3

p.H839Q

c.2517T>G