Varaico: Literature-Extracted Genetic Variants

MUTYH

1,121 papers

RefSeq Summary

This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytos...

Pfam Domains

HhH-GPDaa 118–254UCSCHhH-GPD superfamily base excision DNA repair protein

HHHaa 182–212UCSCHelix-hairpin-helix motif

HHHaa 193–223UCSCHelix-hairpin-helix motif

NUDIX_4aa 360–482UCSCNUDIX domain

NUDIX_4aa 371–493UCSCNUDIX domain

Gene Aliases

HGNC Name

mutY DNA glycosylase

HGNC Previous Name

mutY homolog (E. coli)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001048174.2

p.A26T

c.76G>A

Surrounding Variants

2 papers

NM_001048174.2

p.A26S

c.76G>T

1 paper

NM_001048174.2

p.A26P

c.76G>C

1 paper

NM_001048174.2

p.H25Q

c.75T>G

1 paper

NM_001048174.2

p.H25H

c.75T>C

1 paper

NM_001048174.2

p.H25Q

c.75T>A

2 papers

NM_001048174.2

p.A26V

c.77C>T

1 paper

NM_001048174.2

p.A26G

c.77C>G

1 paper

NM_001048174.2

p.A26D

c.77C>A

1 paper

NM_001048174.2

p.A26A

c.78T>G

1 paper

NM_001048174.2

p.A26A

c.78T>C

1 paper

NM_001048174.2

p.A26A

c.78T>A

1 paper

NM_001048174.2

p.H25L

c.74A>T