Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.S194*

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
5 papers
NM_000536.4
p.S194*
c.581C>G
Surrounding Variants
1 paper
NM_000536.4
p.S194insFs
c.580_581insT
5 papers
NM_000536.4
p.S194*
c.581C>A
4 papers
NM_000536.4
p.Y195D
c.583T>G
1 paper
NM_000536.4
p.E199*
c.595G>T
1 paper
NM_000536.4
p.F187C
c.560T>G
1 paper
NM_000536.4
p.Q201R
c.602A>G
1 paper
NM_000536.4
p.F187I
c.559T>A
1 paper
NM_000536.4
p.D202N
c.604G>A
1 paper
NM_000536.4
p.G203E
c.608G>A
1 paper
NM_000536.4
p.F183delFs
c.549delG
1 paper
NM_000536.4
p.S205A
c.613T>G
1 paper
NM_000536.4
p.S205P
c.613T>C
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