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_001048174.2

p.E141D

c.423G>C

Surrounding Variants

2 papers

NM_001048174.2

p.E141D

c.423G>T

1 paper

NM_001048174.2

p.V142L

c.424G>T

1 paper

NM_012222.3

p.V167M

c.499G>A

1 paper

NM_001048174.2

p.E141delFs

c.421delC

1 paper

NM_012222.3

p.V167delFs

c.499delC

1 paper

NM_001048174.2

p.V142V

c.426G>T

1 paper

NM_001048174.2

p.E140_E141Splc

c.421-1G>T

2 papers

NM_001048174.2

p.E140_E141Splc

c.421-1G>A

1 paper

NM_001048174.2

p.V142V

c.426G>A

1 paper

NM_001048174.2

p.E140_E141Splc

c.421-2A>T

2 papers

NM_001048174.2

p.E140_E141Splc

c.421-2A>G

1 paper

NM_001048174.2

p.N143D

c.427A>G