Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.L466F

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.L466F
c.1396C>T
Surrounding Variants
1 paper
NM_000536.4
p.R464L
c.1391G>T
1 paper
NM_000536.4
p.R464P
c.1391G>C
1 paper
NM_000536.4
p.R464H
c.1391G>A
1 paper
NM_000536.4
p.H468fs
c.1402_1403fs
2 papers
NM_000536.4
p.R464C
c.1390C>T
1 paper
NM_000536.4
p.H468R
c.1403A>G
1 paper
NM_000536.4
p.E463G
c.1388A>G
4 papers
NM_000536.4
p.H468_L469delFs
c.1403_1406del4
1 paper
NM_000536.4
p.A462G
c.1385C>G
2 papers
NM_000536.4
p.A462E
c.1385C>A
1 paper
NM_000536.4
p.H468_L469del2
c.1402_1406del6
1 paper
NM_000536.4
p.A462T
c.1384G>A
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