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

1 paper

NM_005053.4

p.V72A

c.215T>C

Surrounding Variants

1 paper

NM_005053.4

p.V72_V73insFs

c.216_217insA

1 paper

NM_005053.4

p.E68E

c.204G>A

1 paper

NM_005053.4

p.I66T

c.197T>C

1 paper

NM_005053.4

p.R65H

c.194G>A

1 paper

NM_005053.4

p.R65C

c.193C>T

1 paper

NM_005053.4

p.D63V

c.188A>T

1 paper

NM_005053.4

p.D58N

c.172G>A

2 papers

NM_005053.4

p.Y50S

c.149A>C

1 paper

NM_005053.4

p.Y50C

c.149A>G

1 paper

NM_005053.4

p.Y50F

c.149A>T

1 paper

NM_005053.4

p.Y50N

c.148T>A

1 paper

NM_005053.4

p.Y50H

c.148T>C