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

3 papers

NM_000448.3

p.N855I

c.2564A>T

Surrounding Variants

4 papers

NM_000448.3

p.N855S

c.2564A>G

3 papers

NM_000448.3

p.G854D

c.2561G>A

2 papers

NM_000448.3

p.A857S

c.2569G>T

2 papers

NM_000448.3

p.A857D

c.2570C>A

5 papers

NM_000448.3

p.A857V

c.2570C>T

1 paper

NM_000448.3

p.R858delins

c.2573delinsG

1 paper

NM_000448.3

p.M852L

c.2554A>C

1 paper

NM_000448.3

p.M852L

c.2554A>T

2 papers

NM_000448.3

p.R851K

c.2552G>A

1 paper

NM_000448.3

p.M850R

c.2549T>G

1 paper

NM_000448.3

p.I849T

c.2546T>C

1 paper

NM_000448.3

p.M861I

c.2583G>A