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.L80F

c.240G>C

Surrounding Variants

1 paper

NM_000448.3

p.L80F

c.240G>T

1 paper

NM_000448.3

p.L80S

c.239T>C

1 paper

NM_000448.3

p.K82insFs

c.245dupA

1 paper

NM_000448.3

p.L81F

c.243A>T

1 paper

NM_000448.3

p.Q78Q

c.234G>A

1 paper

NM_000448.3

p.Q78*

c.232C>T

5 papers

NM_000448.3

p.T77N

c.230C>A

1 paper

NM_000448.3

p.H84R

c.251A>G

1 paper

NM_000448.3

p.T77S

c.229A>T

3 papers

NM_000448.3

p.P85fs

c.253_254fs

1 paper

NM_000448.3

p.P76L

c.227C>T

1 paper

NM_000448.3

p.P85R

c.254C>G