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.S212A

c.634T>G

Surrounding Variants

1 paper

NM_005053.4

p.S212C

c.635C>G

1 paper

NM_005053.4

p.G211S

c.631G>A

1 paper

NM_005053.4

p.E207K

c.619G>A

1 paper

NM_005053.4

p.S205G

c.613A>G

1 paper

NM_005053.4

p.P222L

c.665C>T

1 paper

NM_005053.4

p.L235L

c.705G>A

1 paper

NM_005053.4

p.R236W

c.706C>T

1 paper

NM_005053.4

p.M244V

c.730A>G

1 paper

NM_005053.4

p.R245Q

c.734G>A

2 papers

NM_005053.4

p.Q261R

c.782A>G

1 paper

NM_005053.4

p.Q264*

c.790C>T

3 papers

NM_005053.4

p.T200M

c.599C>T