Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.I165I

XPA

461 papers

RefSeq Summary

This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts ...

Pfam Domains

XPA_Naa 102–133UCSCXPA protein N-terminal
XPA_Caa 135–186UCSCXPA protein C-terminus

Gene Aliases

HGNC Name

XPA, DNA damage recognition and repair factor

HGNC Alias Symbols

XPAC; XP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000380.4
p.I165I
c.495T>C
Surrounding Variants
1 paper
NM_000380.4
p.I165I
c.495T>A
1 paper
NM_000380.4
p.I165insFs
c.494_495insT
1 paper
NM_000380.4
p.V166L
c.496G>C
3 papers
NM_000380.4
p.V166A
c.497T>C
1 paper
NM_000380.4
p.F164C
c.491T>G
1 paper
NM_000380.4
p.K167E
c.499A>G
1 paper
NM_000380.4
p.K163delFs
c.487_488delTT
1 paper
NM_000380.4
p.E156_L162delFs
c.467_486del20
1 paper
NM_000380.4
p.K163fs
c.487_488fs
1 paper
NM_000380.4
p.K168E
c.502A>G
1 paper
NM_000380.4
p.K163R
c.488A>G
1 paper
NM_000380.4
p.K168N
c.504G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."