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.L399F

c.1195C>T

Surrounding Variants

1 paper

NM_000448.3

p.L400V

c.1198C>G

1 paper

NM_000448.3

p.L400Q

c.1199T>A

1 paper

NM_000448.3

p.S401_A406delFs

c.1201_1216del16

2 papers

NM_000448.3

p.Q397*

c.1189C>T

9 papers

NM_000448.3

p.S401P

c.1201T>C

1 paper

NM_000448.3

p.S401L

c.1202C>T

23 papers

NM_000448.3

p.R396H

c.1187G>A

10 papers

NM_000448.3

p.R396L

c.1187G>T

21 papers

NM_000448.3

p.R396C

c.1186C>T

1 paper

NM_000448.3

p.L402L

c.1204C>T

2 papers

NM_000448.3

p.L402P

c.1205T>C

2 papers

NM_000448.3

p.P395L

c.1184C>T