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

4 papers

NM_000448.3

p.G516A

c.1547G>C

Surrounding Variants

1 paper

NM_000448.3

p.G516R

c.1546G>C

2 papers

NM_000448.3

p.P515L

c.1544C>T

4 papers

NM_000448.3

p.L514R

c.1541T>G

1 paper

NM_000448.3

p.L513F

c.1537C>T

2 papers

NM_000448.3

p.F520L

c.1558T>C

1 paper

NM_000448.3

p.F520S

c.1559T>C

1 paper

NM_000448.3

p.V512I

c.1534G>A

1 paper

NM_000448.3

p.V512L

c.1534G>C

1 paper

NM_000448.3

p.V512L

c.1534G>T

2 papers

NM_000448.3

p.F520L

c.1560T>A

2 papers

NM_000448.3

p.F520L

c.1560T>G

4 papers

NM_000448.3

p.K511K

c.1533G>A