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.S4insFs

c.12dupT

Surrounding Variants

1 paper

NM_000448.3

p.S4insFs

c.10_11ins28

1 paper

NM_000448.3

p.F5insFs

c.13_14ins7

1 paper

NM_000448.3

p.A3V

c.8C>T

1 paper

NM_000448.3

p.A2S

c.4G>T

1 paper

NM_000448.3

p.P7insFs

c.20_21ins17

2 papers

NM_000448.3

p.M1I

c.3G>A

1 paper

NM_000448.3

p.M1I

c.3G>C

1 paper

NM_000448.3

p.M1_A2insFs

c.3_4insA

1 paper

NM_000448.3

p.M1I

c.3G>T

4 papers

NM_000448.3

p.M1T

c.2T>C

1 paper

NM_000448.3

p.M1R

c.2T>G

7 papers

NM_000448.3

p.M1V

c.1A>G