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.H747P

c.2240A>C

Surrounding Variants

1 paper

NM_000448.3

p.H747Q

c.2241C>A

1 paper

NM_000448.3

p.H747Q

c.2241C>G

1 paper

NM_000448.3

p.F746L

c.2238C>A

1 paper

NM_000448.3

p.F746L

c.2238C>G

1 paper

NM_000448.3

p.S748T

c.2242T>A

1 paper

NM_000448.3

p.S748Y

c.2243C>A

2 papers

NM_000448.3

p.F746C

c.2237T>G

1 paper

NM_000448.3

p.F746L

c.2236T>C

1 paper

NM_000448.3

p.I749V

c.2245A>G

1 paper

NM_000448.3

p.V745_T750del0

c.2235_2249del15

1 paper

NM_000448.3

p.S752R

c.2254A>C

1 paper

NM_000448.3

p.S752R

c.2256C>A