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

7 papers

NM_001128425.2

p.N238S

c.713A>G

NM_001048174.2

p.N210S

c.629A>G

NM_012222.3

p.N235S

c.704A>G

Surrounding Variants

1 paper

NM_001048174.2

p.V211L

c.631G>T

1 paper

NM_001048174.2

p.V211L

c.631G>C

3 papers

NM_001048174.2

p.V211I

c.631G>A

1 paper

NM_001048174.2

p.V211fs

c.631_632fs

1 paper

NM_001048174.2

p.V211A

c.632T>C

1 paper

NM_012222.3

p.G234D

c.701G>A

1 paper

NM_001048174.2

p.G209R

c.625G>C

2 papers

NM_001048174.2

p.G209S

c.625G>A

1 paper

NM_001048174.2

p.V211V

c.633A>T

1 paper

NM_001048174.2

p.A212G

c.635C>G

1 paper

NM_001048174.2

p.D208V

c.623A>T

1 paper

NM_012222.3

p.D233H

c.697G>C