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.V597L

c.1789G>C

Surrounding Variants

7 papers

NM_000448.3

p.V597L

c.1789G>T

1 paper

NM_000448.3

p.V597G

c.1790T>G

2 papers

NM_000448.3

p.V598M

c.1792G>A

1 paper

NM_000448.3

p.V596M

c.1786G>A

1 paper

NM_000448.3

p.V598L

c.1792G>C

1 paper

NM_000448.3

p.V598L

c.1792G>T

6 papers

NM_000448.3

p.V598V

c.1794G>A

1 paper

NM_000448.3

p.F594delins

c.1780_1781delinsAC

2 papers

NM_000448.3

p.P593S

c.1777C>T

1 paper

NM_000448.3

p.S601T

c.1801T>A

4 papers

NM_000448.3

p.S601P

c.1801T>C

1 paper

NM_000448.3

p.S601C

c.1802C>G