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

6 papers

NM_000448.3

p.R474S

c.1420C>A

Surrounding Variants

21 papers

NM_000448.3

p.R474C

c.1420C>T

14 papers

NM_000448.3

p.R474H

c.1421G>A

3 papers

NM_000448.3

p.A472V

c.1415C>T

1 paper

NM_000448.3

p.N476fs

c.1426_1427fs

1 paper

NM_000448.3

p.N476delFs

c.1428delC

4 papers

NM_000448.3

p.T477S

c.1429A>T

2 papers

NM_000448.3

p.T477delFs

c.1430delC

4 papers

NM_000448.3

p.T477S

c.1430C>G

3 papers

NM_000448.3

p.C470Y

c.1409G>A

1 paper

NM_000448.3

p.F478L

c.1432T>C

1 paper

NM_000448.3

p.C470fs

c.1408_1409fs

2 papers

NM_000448.3

p.F478fs

c.1432_1433fs