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.R776L

c.2327G>T

Surrounding Variants

6 papers

NM_000448.3

p.R776Q

c.2327G>A

6 papers

NM_000448.3

p.R776W

c.2326C>T

1 paper

NM_000448.3

p.D777N

c.2329G>A

2 papers

NM_000448.3

p.L775Q

c.2324T>A

1 paper

NM_000448.3

p.L775_R776insGCT

c.2323_2327ins9

5 papers

NM_000448.3

p.R778G

c.2332C>G

9 papers

NM_000448.3

p.R778W

c.2332C>T

15 papers

NM_000448.3

p.R778Q

c.2333G>A

1 paper

NM_000448.3

p.R778R

c.2334G>A

2 papers

NM_000448.3

p.E774*

c.2320G>T

3 papers

NM_000448.3

p.V779M

c.2335G>A

1 paper

NM_000448.3

p.E773G

c.2318A>G