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.V350I

c.1048G>A

Surrounding Variants

1 paper

NM_000448.3

p.V350_P359Fs

c.1048_1075delinsAAAAGAGTGFs

1 paper

NM_000448.3

p.N352insFs

c.1054dupA

1 paper

NM_000448.3

p.F347L

c.1041T>A

1 paper

NM_000448.3

p.F347L

c.1041T>G

1 paper

NM_000448.3

p.F347L

c.1039T>C

1 paper

NM_000448.3

p.F347_L348insT

c.1039_1043ins3

1 paper

NM_000448.3

p.S346C

c.1037C>G

1 paper

NM_000448.3

p.L354M

c.1060C>A

1 paper

NM_000448.3

p.L354Q

c.1061T>A

2 papers

NM_000448.3

p.L354R

c.1061T>G

2 papers

NM_000448.3

p.M355T

c.1064T>C

1 paper

NM_000448.3

p.V356M

c.1066G>A