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.K486E

c.1456A>G

Surrounding Variants

1 paper

NM_000448.3

p.K486K

c.1458G>A

1 paper

NM_000448.3

p.M487V

c.1459A>G

1 paper

NM_000448.3

p.H485Y

c.1453C>T

1 paper

NM_000448.3

p.Y488F

c.1463A>T

1 paper

NM_000448.3

p.Y484_V491insFs

c.1450_1472dup23

1 paper

NM_000448.3

p.Y488*

c.1464C>A

1 paper

NM_000448.3

p.Y488*

c.1464C>G

1 paper

NM_000448.3

p.R489S

c.1467G>C

1 paper

NM_000448.3

p.R489S

c.1467G>T

3 papers

NM_000448.3

p.T490A

c.1468A>G

7 papers

NM_000448.3

p.C481C

c.1443C>T

1 paper

NM_000448.3

p.T490I

c.1469C>T