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.R878S

c.2634G>T

Surrounding Variants

1 paper

NM_000448.3

p.R878S

c.2634G>C

1 paper

NM_000448.3

p.R878M

c.2633G>T

4 papers

NM_000448.3

p.E880K

c.2638G>A

1 paper

NM_000448.3

p.E880D

c.2640G>C

1 paper

NM_000448.3

p.E880D

c.2640G>T

2 papers

NM_000448.3

p.E876K

c.2626G>A

1 paper

NM_000448.3

p.S875T

c.2623T>A

2 papers

NM_000448.3

p.S875fs

c.2623_2624fs

1 paper

NM_000448.3

p.P874L

c.2621C>T

1 paper

NM_000448.3

p.P874fs

c.2620_2621fs

1 paper

NM_000448.3

p.R883K

c.2648G>A

1 paper

NM_000448.3

p.R883M

c.2648G>T