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

23 papers

NM_000448.3

p.W522C

c.1566G>T

Surrounding Variants

1 paper

NM_000448.3

p.W522*

c.1566G>A

21 papers

NM_000448.3

p.W522C

c.1566G>C

1 paper

NM_000448.3

p.Q523K

c.1567C>A

1 paper

NM_000448.3

p.W522R

c.1564T>A

1 paper

NM_000448.3

p.W522R

c.1564T>C

1 paper

NM_000448.3

p.P524T

c.1570C>A

1 paper

NM_000448.3

p.P524A

c.1570C>G

1 paper

NM_000448.3

p.P524S

c.1570C>T

2 papers

NM_000448.3

p.F520L

c.1560T>A

2 papers

NM_000448.3

p.F520L

c.1560T>G

4 papers

NM_000448.3

p.P525S

c.1573C>T

1 paper

NM_000448.3

p.F520S

c.1559T>C