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

3 papers

NM_001048174.2

p.G9E

c.26G>A

Surrounding Variants

2 papers

NM_001048174.2

p.G9V

c.26G>T

2 papers

NM_001048174.2

p.G9A

c.26G>C

1 paper

NM_001048174.2

p.G9*

c.25G>T

1 paper

NM_001048174.2

p.A7_V8insFs

c.19_23dup5

1 paper

NM_001048174.2

p.G9R

c.25G>C

1 paper

NM_001048174.2

p.G9R

c.25G>A

1 paper

NM_001048174.2

p.M1_V8del8

c.1_23del24

1 paper

NM_001048174.2

p.G9G

c.27A>T

1 paper

NM_001048174.2

p.G9G

c.27A>G

1 paper

NM_001048174.2

p.G9G

c.27A>C

2 papers

NM_001048174.2

p.V8delFs

c.24delC

1 paper

NM_001048174.2

p.V8V

c.24G>T