Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.P496L

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.P496L
c.1487C>T
Surrounding Variants
1 paper
NM_000536.4
p.K498*
c.1492A>T
1 paper
NM_000536.4
p.R493S
c.1479A>T
1 paper
NM_000536.4
p.R493S
c.1479A>C
2 papers
NM_000536.4
p.K499fs
c.1495_1496fs
1 paper
NM_000536.4
p.K499delFs
c.1496delT
1 paper
NM_000536.4
p.P501T
c.1501C>A
1 paper
NM_000536.4
p.P491A
c.1471C>G
10 papers
NM_000536.4
p.M502V
c.1504A>G
1 paper
NM_000536.4
p.T490S
c.1469C>G
1 paper
NM_000536.4
p.T490S
c.1468A>T
18 papers
NM_000536.4
p.T490A
c.1468A>G
2 papers
NM_000536.4
p.K503R
c.1508A>G
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