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.A834_D837delFs

c.2500_2510del11

Surrounding Variants

1 paper

NM_000448.3

p.A834_H839delFs

c.2502_2515del14

1 paper

NM_000448.3

p.A834S

c.2500G>T

1 paper

NM_000448.3

p.A834_K842delFs

c.2502_2524del23

1 paper

NM_000448.3

p.A834_H839Fs

c.2501_2515delinsCGCTTTTGGTAGATGCCTTCCCATCCACTCGGTTFs

1 paper

NM_000448.3

p.T835_H839delFs

c.2503_2516del14

1 paper

NM_000448.3

p.Q833_K838delFs

c.2499_2512del14

1 paper

NM_000448.3

p.T835A

c.2503A>G

1 paper

NM_000448.3

p.T835_D837del0

c.2504_2509del6

1 paper

NM_000448.3

p.T835R

c.2504C>G

1 paper

NM_000448.3

p.T835_L836delFs

c.2505_2508del4

1 paper

NM_000448.3

p.W832_D837delFs

c.2496_2509del14

1 paper

NM_000448.3

p.L836Fs

c.2506_2508delinsTGFs