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

2 papers

NM_001048174.2

p.L393M

c.1177C>A

Surrounding Variants

1 paper

NM_001048174.2

p.L393L

c.1177C>T

1 paper

NM_001048174.2

p.L392R

c.1175T>G

9 papers

NM_001048174.2

p.Q394*

c.1180C>T

NM_012222.3

p.Q419*

c.1255C>T

1 paper

NM_001128425.2

p.Q422E

c.1264C>G

1 paper

NM_001048174.2

p.L392V

c.1174C>G

1 paper

NM_001048174.2

p.L393insFs

c.1178_1179dupTG

14 papers

NM_001128425.2

p.L420M

c.1258C>A

NM_001048174.2

p.L392M

c.1174C>A

1 paper

NM_001048174.2

p.A391A

c.1173C>T

1 paper

NM_001048174.2

p.Q394Q

c.1182G>A

4 papers

NM_001048174.2

p.A391V

c.1172C>T

1 paper

NM_001048174.2

p.A391D

c.1172C>A

2 papers

NM_001048174.2

p.E395*

c.1183G>T