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.I49F

c.145A>T

Surrounding Variants

1 paper

NM_005053.4

p.I49L

c.145A>C

1 paper

NM_005053.4

p.I49V

c.145A>G

1 paper

NM_005053.4

p.I49N

c.146T>A

1 paper

NM_005053.4

p.I49T

c.146T>C

1 paper

NM_005053.4

p.I49S

c.146T>G

1 paper

NM_005053.4

p.I49M

c.147C>G

1 paper

NM_005053.4

p.L48H

c.143T>A

1 paper

NM_005053.4

p.L48P

c.143T>C

1 paper

NM_005053.4

p.L48R

c.143T>G

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