Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.T250delFs

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.T250delFs
c.749_750delTG
Surrounding Variants
1 paper
NM_000536.4
p.T250fs
c.748_749fs
1 paper
NM_000536.4
p.C249W
c.747C>G
1 paper
NM_000536.4
p.L252F
c.756G>C
2 papers
NM_000536.4
p.C249Y
c.746G>A
1 paper
NM_000536.4
p.P253L
c.758C>T
5 papers
NM_000536.4
p.P253R
c.758C>G
1 paper
NM_000536.4
p.G254delFs
c.760delC
1 paper
NM_000536.4
p.A246G
c.737C>G
1 paper
NM_000536.4
p.A246fs
c.736_737fs
2 papers
NM_000536.4
p.P245L
c.734C>T
1 paper
NM_000536.4
p.S257F
c.770C>T
2 papers
NM_000536.4
p.I256_S257del2
c.766_770del6
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