Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.C124*

RAG2

397 papers

RefSeq Summary

This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activ...

Pfam Domains

RAG2aa 51–389UCSCRecombination activating protein 2
RAG2_PHDaa 414–491UCSCRAG2 PHD domain

Gene Aliases

HGNC Name

recombination activating 2

HGNC Previous Name

recombination activating gene 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000536.4
p.C124*
c.372C>A
Surrounding Variants
1 paper
NM_000536.4
p.T125fs
c.373_374fs
1 paper
NM_000536.4
p.E126Q
c.376G>C
1 paper
NM_000536.4
p.R123P
c.368G>C
2 papers
NM_000536.4
p.R123H
c.368G>A
1 paper
NM_000536.4
p.T125delFs
c.374_375delTG
1 paper
NM_000536.4
p.T125del1
c.373_374delTGT
3 papers
NM_000536.4
p.R123C
c.367C>T
7 papers
NM_000536.4
p.K127*
c.379A>T
1 paper
NM_000536.4
p.T121I
c.362C>T
1 paper
NM_000536.4
p.T121N
c.362C>A
1 paper
NM_000536.4
p.D128A
c.383A>C
1 paper
NM_000536.4
p.V120fs
c.358_359fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."