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.L566F

c.1698G>T

Surrounding Variants

1 paper

NM_000448.3

p.L566F

c.1698G>C

1 paper

NM_000448.3

p.V567L

c.1699G>C

1 paper

NM_000448.3

p.V567L

c.1699G>T

1 paper

NM_000448.3

p.V567A

c.1700T>C

2 papers

NM_000448.3

p.A565D

c.1694C>A

1 paper

NM_000448.3

p.S568Y

c.1703C>A

1 paper

NM_000448.3

p.S568C

c.1703C>G

2 papers

NM_000448.3

p.A565P

c.1693G>C

1 paper

NM_000448.3

p.S564L

c.1691C>T

2 papers

NM_000448.3

p.A569S

c.1705G>T

2 papers

NM_000448.3

p.D563Y

c.1687G>T

1 paper

NM_000448.3

p.Y562*

c.1686T>A