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.C733*

c.2199T>A

Surrounding Variants

1 paper

NM_000448.3

p.C733Y

c.2198G>A

1 paper

NM_000448.3

p.A735T

c.2203G>A

4 papers

NM_000448.3

p.L732P

c.2195T>C

3 papers

NM_000448.3

p.L732fs

c.2194_2195fs

7 papers

NM_000448.3

p.L732F

c.2194C>T

2 papers

NM_000448.3

p.A735V

c.2204C>T

3 papers

NM_000448.3

p.L732_C733delFs

c.2196_2197delTT

1 paper

NM_000448.3

p.T731S

c.2192C>G

2 papers

NM_000448.3

p.T731I

c.2192C>T

1 paper

NM_000448.3

p.T731A

c.2191A>G

1 paper

NM_000448.3

p.T731S

c.2191A>T

1 paper

NM_000448.3

p.T736N

c.2207C>A