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.K903*

c.2707A>T

Surrounding Variants

1 paper

NM_000448.3

p.A902D

c.2705C>A

1 paper

NM_000448.3

p.A902insFs

c.2706dupT

1 paper

NM_000448.3

p.E904K

c.2710G>A

1 paper

NM_000448.3

p.C905S

c.2713T>A

2 papers

NM_000448.3

p.C900*

c.2700C>A

1 paper

NM_000448.3

p.C905S

c.2714G>C

1 paper

NM_000448.3

p.P901_A902delFs

c.2701_2705del5

1 paper

NM_000448.3

p.E907K

c.2719G>A

1 paper

NM_000448.3

p.E907D

c.2721A>C

1 paper

NM_000448.3

p.E907D

c.2721A>T

4 papers

NM_000448.3

p.R897Q

c.2690G>A

10 papers

NM_000448.3

p.R897*

c.2689C>T