Varaico: Literature-Extracted Genetic Variants

Gene:XRCC3
Variant:p.Y330*

XRCC3

1,061 papers

RefSeq Summary

This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complem...

Pfam Domains

HHH_XRCC3_RpoAaa 3–57UCSCXRCC3/RpoA-like, helix-hairpin-helix domain
Rad51aa 77–340UCSCRad51

Gene Aliases

HGNC Name

X-ray repair cross complementing 3

HGNC Previous Name

X-ray repair complementing defective repair in Chinese hamster cells 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005432.4
p.Y330*
c.990C>G
Surrounding Variants
1 paper
NM_005432.4
p.Y330*
c.990C>A
1 paper
NM_005432.4
p.T331M
c.992C>T
1 paper
NM_005432.4
p.S333I
c.998G>T
1 paper
NM_005432.4
p.S327fs
c.979_980fs
1 paper
NM_005432.4
p.E335K
c.1003G>A
22 papers
NM_005432.4
p.S326C
c.977C>G
1 paper
NM_005432.4
p.S326fs
c.976_977fs
1 paper
NM_005432.4
p.P325P
c.975C>G
1 paper
NM_005432.4
p.P325S
c.973C>T
1 paper
NM_005432.4
p.V337E
c.1010T>A
1 paper
NM_005432.4
p.V337insFs
c.1010dupT
1 paper
NM_005432.4
p.R338fs
c.1012_1013fs
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