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_001128425.2

p.R245L

c.734G>T

Surrounding Variants

51 papers

NM_001048174.2

p.R217H

c.650G>A

NM_001128425.2

p.R245H

c.734G>A

NM_012222.3

p.R242H

c.725G>A

NM_001048172.2

p.R218H

c.653G>A

1 paper

NM_001048174.2

p.R217R

c.651T>A

25 papers

NM_012222.3

p.R242C

c.724C>T

NM_001128425.2

p.R245C

c.733C>T

NM_001048174.2

p.R217C

c.649C>T

1 paper

NM_001048174.2

p.R217G

c.649C>G

1 paper

NM_001128425.2

p.R245S

c.733C>A

14 papers

NM_001048174.2

p.V218F

c.652G>T

NM_001128425.2

p.V246F

c.736G>T

NM_012222.3

p.V243F

c.727G>T

1 paper

NM_001048174.2

p.V218_R219insT

c.652_656ins3

1 paper

NM_001048174.2

p.V218I

c.652G>A

2 papers

NM_001048174.2

p.V218fs

c.652_653fs

1 paper

NM_001048174.2

p.V218A

c.653T>C

1 paper

NM_001048174.2

p.C216S

c.647G>C

2 papers

NM_001128425.2

p.C244Y

c.731G>A

NM_001048174.2

p.C216Y

c.647G>A