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

2 papers

NM_001048172.2

p.Y152*

c.456C>G

NM_001048174.2

p.Y151*

c.453C>G

Surrounding Variants

2 papers

NM_001048172.2

p.Y152*

c.456C>A

NM_001048174.2

p.Y151*

c.453C>A

1 paper

NM_001048174.2

p.Y151delFs

c.451_452delTA

1 paper

NM_001048174.2

p.Y152insFs

c.454_455insC

2 papers

NM_001048174.2

p.Y152H

c.454T>C

1 paper

NM_001048174.2

p.Y151F

c.452A>T

156 papers

NM_001128425.2

p.Y179C

c.536A>G

NM_001048174.2

p.Y151C

c.452A>G

NM_012222.3

p.Y176C

c.527A>G

NM_001048172.2

p.Y152C

c.455A>G

2 papers

NM_001128425.2

p.Y179D

c.535T>G

5 papers

NM_001048174.2

p.Y152C

c.455A>G

1 paper

NM_001048174.2

p.Y152insFs

c.455dupA

1 paper

NM_001048174.2

p.Y152*

c.456T>G

1 paper

NM_001048174.2

p.Y152*

c.456T>A

1 paper

NM_012222.3

p.L174delFs

c.522delC