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

6 papers

NM_001048174.2

p.R13K

c.38G>A

Surrounding Variants

1 paper

NM_001048174.2

p.R13M

c.38G>T

1 paper

NM_001048174.2

p.R13T

c.38G>C

1 paper

NM_001048174.2

p.R13delFs

c.37delT

1 paper

NM_001048174.2

p.H12_R13delFs

c.36_37delTG

1 paper

NM_001048174.2

p.R13S

c.39G>T

1 paper

NM_001048174.2

p.R13S

c.39G>C

1 paper

NM_001048174.2

p.R13R

c.39G>A

2 papers

NM_001048174.2

p.R13W

c.37A>T

2 papers

NM_001048174.2

p.R13G

c.37A>G

1 paper

NM_001048174.2

p.R13R

c.37A>C

1 paper

NM_001048174.2

p.R13insFs

c.37_38insCC

1 paper

NM_001048174.2

p.H12H

c.36C>T