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.M977I

c.2931G>A

Surrounding Variants

1 paper

NM_000448.3

p.M977I

c.2931G>C

1 paper

NM_000448.3

p.M977I

c.2931G>T

1 paper

NM_000448.3

p.N978fs

c.2932_2933fs

1 paper

NM_000448.3

p.M977delFs

c.2930delT

1 paper

NM_000448.3

p.N978delFs

c.2934delT

1 paper

NM_000448.3

p.M977fs

c.2929_2930fs

2 papers

NM_000448.3

p.A979T

c.2935G>A

30 papers

NM_000448.3

p.R975Q

c.2924G>A

2 papers

NM_000448.3

p.R975P

c.2924G>C

27 papers

NM_000448.3

p.R975W

c.2923C>T

1 paper

NM_000448.3

p.R980K

c.2939G>A

16 papers

NM_000448.3

p.F974L

c.2922C>A