Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.D49A

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.D49A
c.146A>C
Surrounding Variants
1 paper
NM_000536.4
p.D49H
c.145G>C
1 paper
NM_000536.4
p.V50I
c.148G>A
1 paper
NM_000536.4
p.L48P
c.143T>C
1 paper
NM_000536.4
p.L48Q
c.143T>A
1 paper
NM_000536.4
p.H47Q
c.141T>G
1 paper
NM_000536.4
p.H47Q
c.141T>A
1 paper
NM_000536.4
p.V50_K51insFs
c.150_151ins4
1 paper
NM_000536.4
p.H47L
c.140A>T
1 paper
NM_000536.4
p.K51N
c.153G>T
1 paper
NM_000536.4
p.K51N
c.153G>C
1 paper
NM_000536.4
p.V50delFs
c.150delT
1 paper
NM_000536.4
p.H47Y
c.139C>T
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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."