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.R883M

c.2648G>T

Surrounding Variants

1 paper

NM_000448.3

p.R883K

c.2648G>A

1 paper

NM_000448.3

p.L885P

c.2654T>C

8 papers

NM_000448.3

p.L885R

c.2654T>G

1 paper

NM_000448.3

p.E880D

c.2640G>C

1 paper

NM_000448.3

p.E880D

c.2640G>T

1 paper

NM_000448.3

p.M886T

c.2657T>C

4 papers

NM_000448.3

p.E880K

c.2638G>A

7 papers

NM_000448.3

p.D887N

c.2659G>A

1 paper

NM_000448.3

p.L888delFs

c.2662delC

1 paper

NM_000448.3

p.L888F

c.2662C>T

1 paper

NM_000448.3

p.L888fs

c.2662_2663fs

1 paper

NM_000448.3

p.R878S

c.2634G>C