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.F312L

c.936T>A

Surrounding Variants

2 papers

NM_000448.3

p.C313S

c.937T>A

2 papers

NM_000448.3

p.C313R

c.937T>C

1 paper

NM_000448.3

p.C313Y

c.938G>A

2 papers

NM_000448.3

p.C313S

c.938G>C

13 papers

NM_000448.3

p.R314W

c.940C>T

1 paper

NM_000448.3

p.H310Q

c.930T>A

1 paper

NM_000448.3

p.H310Q

c.930T>G

1 paper

NM_000448.3

p.V315I

c.943G>A

1 paper

NM_000448.3

p.H310Y

c.928C>T

1 paper

NM_000448.3

p.H310delFs

c.929delA

1 paper

NM_000448.3

p.V315G

c.944T>G

1 paper

NM_000448.3

p.L318H

c.953T>A