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

2 papers

NM_000448.3

p.E95G

c.284A>G

Surrounding Variants

1 paper

NM_000448.3

p.E95A

c.284A>C

3 papers

NM_000448.3

p.E95K

c.283G>A

2 papers

NM_000448.3

p.K96E

c.286A>G

1 paper

NM_000448.3

p.N94S

c.281A>G

1 paper

NM_000448.3

p.N94Y

c.280A>T

1 paper

NM_000448.3

p.D93D

c.279C>T

1 paper

NM_000448.3

p.A97E

c.290C>A

1 paper

NM_000448.3

p.A97V

c.290C>T

1 paper

NM_000448.3

p.D93N

c.277G>A

2 papers

NM_000448.3

p.D93H

c.277G>C

1 paper

NM_000448.3

p.H92Q

c.276C>A

1 paper

NM_000448.3

p.H92Q

c.276C>G