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

2 papers

NM_000448.3

p.N650T

c.1949A>C

Surrounding Variants

2 papers

NM_000448.3

p.N650K

c.1950C>A

2 papers

NM_000448.3

p.N650K

c.1950C>G

3 papers

NM_000448.3

p.S651P

c.1951T>C

1 paper

NM_000448.3

p.P649L

c.1946C>T

1 paper

NM_000448.3

p.P649fs

c.1945_1946fs

1 paper

NM_000448.3

p.E646*

c.1936G>T

1 paper

NM_000448.3

p.E645K

c.1933G>A

1 paper

NM_000448.3

p.P657_L660delFs

c.1971_1978del8

1 paper

NM_000448.3

p.V643fs

c.1927_1928fs

1 paper

NM_000448.3

p.L658V

c.1972T>G

1 paper

NM_000448.3

p.K642Q

c.1924A>C

1 paper

NM_000448.3

p.C659Y

c.1976G>A