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.W381R

c.1141T>C

Surrounding Variants

1 paper

NM_001048172.2

p.W382*

c.1145G>A

1 paper

NM_001048174.2

p.T380T

c.1140C>A

1 paper

NM_001048174.2

p.W381*

c.1143G>A

3 papers

NM_001048174.2

p.T380delFs

c.1138delT

2 papers

NM_001048174.2

p.E382*

c.1144G>T

1 paper

NM_001048174.2

p.E382Q

c.1144G>C

2 papers

NM_001048174.2

p.E382K

c.1144G>A

17 papers

NM_001048174.2

p.E382fs

c.1144_1145fs

NM_001128425.2

p.E410fs

c.1228_1229fs

NM_012222.3

p.E407fs

c.1219_1220fs

1 paper

NM_001048174.2

p.E382G

c.1145A>G

3 papers

NM_001128425.2

p.E410insFs

c.1228dupG

42 papers

NM_001048174.2

p.W381_E382insFs

c.1143_1144dupGG

NM_012222.3

p.E407insFs

c.1220_1221insGG

NM_001128425.2

p.W409_E410insFs

c.1227_1228dupGG

1 paper

NM_001128425.2

p.V407insFs

c.1219dupG