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.E30D

c.90G>C

Surrounding Variants

1 paper

NM_005053.4

p.E30D

c.90G>T

1 paper

NM_005053.4

p.E30A

c.89A>C

1 paper

NM_005053.4

p.K31Q

c.91A>C

1 paper

NM_005053.4

p.E30G

c.89A>G

1 paper

NM_005053.4

p.K31E

c.91A>G

1 paper

NM_005053.4

p.E30V

c.89A>T

1 paper

NM_005053.4

p.K31T

c.92A>C

1 paper

NM_005053.4

p.K31R

c.92A>G

1 paper

NM_005053.4

p.K31M

c.92A>T

1 paper

NM_005053.4

p.E30K

c.88G>A

1 paper

NM_005053.4

p.E30Q

c.88G>C

1 paper

NM_005053.4

p.E30fs

c.88_89fs