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

5 papers

NM_001048174.2

p.G39Splc

c.115+1G>A

Surrounding Variants

1 paper

NM_001048174.2

p.G39C

c.115G>T

1 paper

NM_001048174.2

p.G39R

c.115G>C

1 paper

NM_001048174.2

p.G39S

c.115G>A

1 paper

NM_001048174.2

p.D38E

c.114T>G

1 paper

NM_001048174.2

p.D38D

c.114T>C

1 paper

NM_001048174.2

p.D38E

c.114T>A

2 papers

NM_001048174.2

p.D38V

c.113A>T

2 papers

NM_001048174.2

p.D38G

c.113A>G

1 paper

NM_001048174.2

p.D38A

c.113A>C

1 paper

NM_001048174.2

p.A36_C37del2

c.106_110del6

1 paper

NM_001048174.2

p.D38Y

c.112G>T

1 paper

NM_001048174.2

p.D38_G39insG

c.112_116ins3