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

1–12 of 342 variants

3 papers

NM_005053.4

p.T200M

c.599C>T

2 papers

NM_005053.4

p.K29R

c.86A>G

2 papers

NM_005053.4

p.G37V

c.110G>T

2 papers

NM_005053.4

p.Y50S

c.149A>C

2 papers

NM_005053.4

p.T131A

c.391A>G

2 papers

NM_005053.4

p.R179Q

c.536G>A

2 papers

NM_005053.4

p.R193Q

c.578G>A

2 papers

NM_005053.4

p.Q261R

c.782A>G

1 paper

NM_005053.4

p.M1T

c.2T>C

1 paper

NM_005053.4

p.T4A

c.10A>G

1 paper

NM_005053.4

p.T4S

c.10A>T

1 paper

NM_005053.4

p.I5V

c.13A>G