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

31 papers

NM_000448.3

p.A444V

c.1331C>T

Surrounding Variants

5 papers

NM_000448.3

p.R443K

c.1328G>A

1 paper

NM_000448.3

p.N446D

c.1336A>G

1 paper

NM_000448.3

p.N446Y

c.1336A>T

1 paper

NM_000448.3

p.N446S

c.1337A>G

1 paper

NM_000448.3

p.N446I

c.1337A>T

2 papers

NM_000448.3

p.A441V

c.1322C>T

3 papers

NM_000448.3

p.E447E

c.1341G>A

1 paper

NM_000448.3

p.A441T

c.1321G>A

1 paper

NM_000448.3

p.A441S

c.1321G>T

1 paper

NM_000448.3

p.L440L

c.1320G>A

1 paper

NM_000448.3

p.R449_Q450insT

c.1345_1349ins3

15 papers

NM_000448.3

p.R449K

c.1346G>A