Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.C423Y

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
4 papers
NM_000536.4
p.C423Y
c.1268G>A
Surrounding Variants
1 paper
NM_000536.4
p.C423S
c.1268G>C
1 paper
NM_000536.4
p.D424V
c.1271A>T
1 paper
NM_000536.4
p.P421L
c.1262C>T
1 paper
NM_000536.4
p.P421H
c.1262C>A
1 paper
NM_000536.4
p.P421S
c.1261C>T
1 paper
NM_000536.4
p.P421T
c.1261C>A
1 paper
NM_000536.4
p.D426Y
c.1276G>T
1 paper
NM_000536.4
p.D426N
c.1276G>A
1 paper
NM_000536.4
p.D426G
c.1277A>G
1 paper
NM_000536.4
p.D426_I427insFs
c.1278_1279insC
2 papers
NM_000536.4
p.C419W
c.1257C>G
1 paper
NM_000536.4
p.I427fs
c.1279_1280fs
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