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.S1034A

c.3100T>G

Surrounding Variants

1 paper

NM_000448.3

p.G1030V

c.3089G>T

1 paper

NM_000448.3

p.L1029L

c.3087A>G

2 papers

NM_000448.3

p.P1028L

c.3083C>T

1 paper

NM_000448.3

p.D1039E

c.3117T>A

1 paper

NM_000448.3

p.D1039E

c.3117T>G

1 paper

NM_000448.3

p.D1027G

c.3080A>G

1 paper

NM_000448.3

p.M1041L

c.3121A>C

1 paper

NM_000448.3

p.M1041L

c.3121A>T

1 paper

NM_000448.3

p.E1042*

c.3124G>T

1 paper

NM_000448.3

p.F1043V

c.3127T>G

1 paper

NM_000448.3

p.L1025fs

c.3073_3074fs

1 paper

NM_000448.3

p.L1025fs

c.3073_3074fs