Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.H54Y

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.H54Y
c.160C>T
Surrounding Variants
1 paper
NM_000536.4
p.N53K
c.159C>G
1 paper
NM_000536.4
p.N53K
c.159C>A
1 paper
NM_000536.4
p.H54R
c.161A>G
1 paper
NM_000536.4
p.V55I
c.163G>A
1 paper
NM_000536.4
p.N53H
c.157A>C
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.V50_K51insFs
c.150_151ins4
1 paper
NM_000536.4
p.L57P
c.170T>C
1 paper
NM_000536.4
p.V50I
c.148G>A
2 papers
NM_000536.4
p.L57delFs
c.171delC
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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."