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

24 papers

NM_000448.3

p.R559S

c.1677G>T

Surrounding Variants

23 papers

NM_000448.3

p.R559S

c.1677G>C

2 papers

NM_000448.3

p.R559K

c.1676G>A

1 paper

NM_000448.3

p.F560L

c.1678T>C

1 paper

NM_000448.3

p.R559W

c.1675A>T

1 paper

NM_000448.3

p.F560L

c.1680C>A

1 paper

NM_000448.3

p.F560L

c.1680C>G

3 papers

NM_000448.3

p.K558N

c.1674G>C

3 papers

NM_000448.3

p.K558N

c.1674G>T

1 paper

NM_000448.3

p.R561S

c.1681C>A

20 papers

NM_000448.3

p.R561C

c.1681C>T

1 paper

NM_000448.3

p.K558Q

c.1672A>C

23 papers

NM_000448.3

p.R561H

c.1682G>A