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.S961T

c.2882G>C

Surrounding Variants

1 paper

NM_000448.3

p.S961N

c.2882G>A

1 paper

NM_000448.3

p.A960A

c.2880A>G

3 papers

NM_000448.3

p.E962Q

c.2884G>C

7 papers

NM_000448.3

p.E962A

c.2885A>C

1 paper

NM_000448.3

p.A960V

c.2879C>T

1 paper

NM_000448.3

p.A960T

c.2878G>A

3 papers

NM_000448.3

p.E962D

c.2886G>C

3 papers

NM_000448.3

p.E962D

c.2886G>T

7 papers

NM_000448.3

p.W959*

c.2877G>A

7 papers

NM_000448.3

p.W959*

c.2876G>A

1 paper

NM_000448.3

p.G963E

c.2888G>A

1 paper

NM_000448.3

p.N964fs

c.2890_2891fs