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.S10R

c.30T>G

Surrounding Variants

2 papers

NM_001048174.2

p.S10S

c.30T>C

1 paper

NM_001048174.2

p.S10R

c.30T>A

2 papers

NM_001048174.2

p.G11C

c.31G>T

2 papers

NM_001048174.2

p.S10I

c.29G>T

3 papers

NM_001048174.2

p.S10T

c.29G>C

1 paper

NM_001048174.2

p.G11R

c.31G>C

3 papers

NM_001048174.2

p.G11S

c.31G>A

2 papers

NM_001048174.2

p.S10N

c.29G>A

1 paper

NM_001048174.2

p.G11V

c.32G>T

1 paper

NM_001048174.2

p.G11A

c.32G>C

23 papers

NM_001048174.2

p.G11D

c.32G>A

NM_001128425.2

p.G25D

c.74G>A

2 papers

NM_001048174.2

p.S10C

c.28A>T