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

1–12 of 1339 variants

43 papers

NM_000448.3

p.R737H

c.2210G>A

33 papers

NM_000448.3

p.K820R

c.2459A>G

31 papers

NM_000448.3

p.A444V

c.1331C>T

30 papers

NM_000448.3

p.R975Q

c.2924G>A

27 papers

NM_000448.3

p.R975W

c.2923C>T

25 papers

NM_000448.3

p.K86delFs

c.256_257delAA

24 papers

NM_000448.3

p.R559S

c.1677G>T

24 papers

NM_000448.3

p.R841W

c.2521C>T

23 papers

NM_000448.3

p.R396H

c.1187G>A

23 papers

NM_000448.3

p.W522C

c.1566G>T

23 papers

NM_000448.3

p.R559S

c.1677G>C

23 papers

NM_000448.3

p.R561H

c.1682G>A