Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.P180H

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
6 papers
NM_000536.4
p.P180H
c.539C>A
Surrounding Variants
1 paper
NM_000536.4
p.P180S
c.538C>T
1 paper
NM_000536.4
p.F183L
c.547T>C
1 paper
NM_000536.4
p.F183L
c.549C>G
1 paper
NM_000536.4
p.F183L
c.549C>A
1 paper
NM_000536.4
p.F183delFs
c.549delG
2 papers
NM_000536.4
p.N173delFs
c.519delA
1 paper
NM_000536.4
p.F187I
c.559T>A
1 paper
NM_000536.4
p.F187C
c.560T>G
5 papers
NM_000536.4
p.N173S
c.518A>G
2 papers
NM_000536.4
p.W172*
c.516G>A
3 papers
NM_000536.4
p.E170G
c.509A>G
1 paper
NM_000536.4
p.T169A
c.505A>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."