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.A405A

c.1215C>T

Surrounding Variants

21 papers

NM_001048174.2

p.A405V

c.1214C>T

1 paper

NM_001048174.2

p.T406A

c.1216A>G

1 paper

NM_001048174.2

p.A405S

c.1213G>T

5 papers

NM_001048174.2

p.A405T

c.1213G>A

4 papers

NM_001128425.2

p.T434M

c.1301C>T

NM_001048174.2

p.T406M

c.1217C>T

1 paper

NM_001048174.2

p.P404_A405insFs

c.1212_1213insTG

1 paper

NM_001048174.2

p.P404fs

c.1210_1211fs

2 papers

NM_001048174.2

p.L403delFs

c.1209delG

1 paper

NM_001048174.2

p.P404L

c.1211C>T

1 paper

NM_001048174.2

p.H407insFs

c.1219_1220insGG

1 paper

NM_001048174.2

p.P404T

c.1210C>A

3 papers

NM_001048174.2

p.T406_H407insFs

c.1218_1219dupGC