Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.R300H

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
2 papers
NM_000536.4
p.R300H
c.899G>A
Surrounding Variants
1 paper
NM_000536.4
p.E301*
c.901G>T
1 paper
NM_000536.4
p.E301fs
c.901_902fs
1 paper
NM_000536.4
p.M302L
c.904A>T
1 paper
NM_000536.4
p.M302L
c.904A>C
1 paper
NM_000536.4
p.E298A
c.893A>C
1 paper
NM_000536.4
p.K296M
c.887A>T
1 paper
NM_000536.4
p.P305S
c.913C>T
5 papers
NM_000536.4
p.P305A
c.913C>G
1 paper
NM_000536.4
p.D306N
c.916G>A
1 paper
NM_000536.4
p.D306V
c.917A>T
6 papers
NM_000536.4
p.W307*
c.920G>A
1 paper
NM_000536.4
p.E293G
c.878A>G
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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."