Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.C478S

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.C478S
c.1433G>C
Surrounding Variants
3 papers
NM_000536.4
p.C478F
c.1433G>T
15 papers
NM_000536.4
p.C478Y
c.1433G>A
1 paper
NM_000536.4
p.C478R
c.1432T>C
1 paper
NM_000536.4
p.C478S
c.1432T>A
1 paper
NM_000536.4
p.Y477H
c.1429T>C
1 paper
NM_000536.4
p.Y477N
c.1429T>A
8 papers
NM_000536.4
p.E480*
c.1438G>T
1 paper
NM_000536.4
p.E480Q
c.1438G>C
1 paper
NM_000536.4
p.Y476H
c.1426T>C
1 paper
NM_000536.4
p.H481D
c.1441C>G
1 paper
NM_000536.4
p.H481R
c.1442A>G
10 papers
NM_000536.4
p.H481P
c.1442A>C
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