Varaico: Literature-Extracted Genetic Variants

RAD23A

76 papers

RefSeq Summary

The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structu...

Pfam Domains

ubiquitinaa 5–79UCSCUbiquitin family

UBAaa 162–198UCSCUBA/TS-N domain

XPC-bindingaa 232–288UCSCXPC-binding domain

UBAaa 319–355UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

RAD23 nucleotide excision repair protein A

HGNC Alias Symbols

HHR23A; MGC111083

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005053.4

p.T131A

c.391A>G

Surrounding Variants

1 paper

NM_005053.4

p.T131K

c.392C>A

1 paper

NM_005053.4

p.P124S

c.370C>T

1 paper

NM_005053.4

p.R119K

c.356G>A

1 paper

NM_005053.4

p.P104L

c.311C>T

1 paper

NM_005053.4

p.S100C

c.299C>G

1 paper

NM_005053.4

p.P88_P89del2

c.262_266del6

1 paper

NM_005053.4

p.A81V

c.242C>T

1 paper

NM_005053.4

p.T79P

c.235A>C

1 paper

NM_005053.4

p.G139Splc

c.417-1G>C

1 paper

NM_005053.4

p.G145D

c.434G>A

1 paper

NM_005053.4

p.E150K

c.448G>A

1 paper

NM_005053.4

p.V72_V73insFs

c.216_217insA