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

9 papers

NM_000448.3

p.R507Q

c.1520G>A

Surrounding Variants

4 papers

NM_000448.3

p.R507G

c.1519C>G

17 papers

NM_000448.3

p.R507W

c.1519C>T

8 papers

NM_000448.3

p.L506F

c.1516C>T

1 paper

NM_000448.3

p.N508N

c.1524T>C

1 paper

NM_000448.3

p.A509T

c.1525G>A

1 paper

NM_000448.3

p.A505V

c.1514C>T

1 paper

NM_000448.3

p.E510K

c.1528G>A

2 papers

NM_000448.3

p.E510*

c.1528G>T

1 paper

NM_000448.3

p.H504P

c.1511A>C

4 papers

NM_000448.3

p.K511K

c.1533G>A

1 paper

NM_000448.3

p.K511N

c.1533G>C

1 paper

NM_000448.3

p.K511N

c.1533G>T