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.K47I

c.140A>T

Surrounding Variants

1 paper

NM_005053.4

p.K47T

c.140A>C

1 paper

NM_005053.4

p.K47R

c.140A>G

1 paper

NM_005053.4

p.K47Q

c.139A>C

1 paper

NM_005053.4

p.K47N

c.141A>C

1 paper

NM_005053.4

p.K47E

c.139A>G

1 paper

NM_005053.4

p.K47N

c.141A>T

1 paper

NM_005053.4

p.L48I

c.142C>A

1 paper

NM_005053.4

p.L48V

c.142C>G

1 paper

NM_005053.4

p.L48F

c.142C>T

1 paper

NM_005053.4

p.Q46H

c.138G>C

1 paper

NM_005053.4

p.Q46H

c.138G>T

1 paper

NM_005053.4

p.Q46P

c.137A>C