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

8 papers

NM_000448.3

p.V433V

c.1299G>A

Surrounding Variants

4 papers

NM_000448.3

p.V433V

c.1299G>T

2 papers

NM_000448.3

p.V433A

c.1298T>C

1 paper

NM_000448.3

p.C434R

c.1300T>C

6 papers

NM_000448.3

p.V433M

c.1297G>A

1 paper

NM_000448.3

p.C434F

c.1301G>T

17 papers

NM_000448.3

p.M435V

c.1303A>G

2 papers

NM_000448.3

p.T436N

c.1307C>A

1 paper

NM_000448.3

p.T436I

c.1307C>T

1 paper

NM_000448.3

p.V430M

c.1288G>A

12 papers

NM_000448.3

p.D429G

c.1286A>G

3 papers

NM_000448.3

p.F438S

c.1313T>C

1 paper

NM_000448.3

p.L439fs

c.1315_1316fs