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.R764H

c.2291G>A

Surrounding Variants

6 papers

NM_000448.3

p.R764P

c.2291G>C

5 papers

NM_000448.3

p.R764C

c.2290C>T

1 paper

NM_000448.3

p.N766T

c.2297A>C

1 paper

NM_000448.3

p.P767S

c.2299C>T

2 papers

NM_000448.3

p.Y768delFs

c.2302delT

1 paper

NM_000448.3

p.Y760C

c.2279A>G

2 papers

NM_000448.3

p.Y768*

c.2304C>A

2 papers

NM_000448.3

p.Y768*

c.2304C>G

1 paper

NM_000448.3

p.H769L

c.2306A>T

5 papers

NM_000448.3

p.R759H

c.2276G>A

11 papers

NM_000448.3

p.R759C

c.2275C>T

1 paper

NM_000448.3

p.H769Q

c.2307T>A