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.A162P

c.484G>C

Surrounding Variants

1 paper

NM_001048174.2

p.A162fs

c.484_485fs

2 papers

NM_001048174.2

p.A162S

c.484G>T

7 papers

NM_012222.3

p.A187T

c.559G>A

NM_001048174.2

p.A162T

c.484G>A

1 paper

NM_012222.3

p.A187V

c.560C>T

2 papers

NM_001048174.2

p.A162delFs

c.484delC

2 papers

NM_001128425.2

p.G189E

c.566G>A

NM_012222.3

p.G186E

c.557G>A

1 paper

NM_001048174.2

p.G161*

c.481G>T

1 paper

NM_001048174.2

p.G161insFs

c.481_482ins5

6 papers

NM_001128425.2

p.G189R

c.565G>C

NM_001048174.2

p.G161R

c.481G>C

2 papers

NM_001128425.2

p.G189R

c.565G>A

NM_001048174.2

p.G161R

c.481G>A

2 papers

NM_001048174.2

p.E160delFs

c.479_480delCT

1 paper

NM_001048174.2

p.R163W

c.487C>T