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.R98S

c.294A>T

Surrounding Variants

1 paper

NM_000448.3

p.R98S

c.294A>C

4 papers

NM_000448.3

p.G99S

c.295G>A

1 paper

NM_000448.3

p.G99D

c.296G>A

1 paper

NM_000448.3

p.K100E

c.298A>G

1 paper

NM_000448.3

p.A97E

c.290C>A

1 paper

NM_000448.3

p.A97V

c.290C>T

2 papers

NM_000448.3

p.K96E

c.286A>G

1 paper

NM_000448.3

p.A101E

c.302C>A

1 paper

NM_000448.3

p.A101G

c.302C>G

1 paper

NM_000448.3

p.A101V

c.302C>T

1 paper

NM_000448.3

p.E95A

c.284A>C

2 papers

NM_000448.3

p.E95G

c.284A>G