Varaico: Literature-Extracted Genetic Variants

XPC

1,008 papers

RefSeq Summary

The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is impor...

Pfam Domains

Rad4aa 494–626UCSCRad4 transglutaminase-like domain

BHD_1aa 631–681UCSCRad4 beta-hairpin domain 1

BHD_2aa 685–744UCSCRad4 beta-hairpin domain 2

BHD_3aa 751–824UCSCRad4 beta-hairpin domain 3

Gene Aliases

HGNC Name

XPC complex subunit, DNA damage recognition and repair factor

HGNC Alias Symbols

XPCC; RAD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004628.5

p.P936A

c.2806C>G

Surrounding Variants

1 paper

NM_004628.5

p.P936Q

c.2807C>A

1 paper

NM_004628.5

p.F937L

c.2809T>C

1 paper

NM_004628.5

p.F937L

c.2811T>G

1 paper

NM_004628.5

p.F937L

c.2811T>A

1 paper

NM_004628.5

p.P936_F937delFs

c.2808_2811del4

1 paper

NM_004628.5

p.Q939E

c.2815C>G

45 papers

NM_004628.5

p.Q939K

c.2815C>A

1 paper

NM_004628.5

p.Q939H

c.2817G>T

1 paper

NM_004628.5

p.Q939H

c.2817G>C

1 paper

NM_004628.5

p.S932F

c.2795C>T

1 paper

NM_004628.5

p.A930G

c.2789C>G

3 papers

NM_004628.5

p.K928Q

c.2782A>C