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

47 papers

NM_001048174.2

p.R283_V284Splc

c.850-2A>G

NM_001128425.2

p.R311_V312Splc

c.934-2A>G

Surrounding Variants

3 papers

NM_001128425.2

p.R311_V312Splc

c.934-2A>C

NM_001048174.2

p.R283_V284Splc

c.850-2A>C

1 paper

NM_001048174.2

p.R283_V284Splc

c.850-1G>T

1 paper

NM_001048174.2

p.V284L

c.850G>T

1 paper

NM_001048174.2

p.V284L

c.850G>C

1 paper

NM_001048174.2

p.V284M

c.850G>A

1 paper

NM_001128425.2

p.V312fs

c.934_935fs

1 paper

NM_001048174.2

p.V284insFs

c.850dupG

1 paper

NM_001048174.2

p.V284delFs

c.850delC

2 papers

NM_001048174.2

p.R283_V284Splc

c.850-6T>G

1 paper

NM_001128425.2

p.V312fs

c.934_935fs

1 paper

NM_001048174.2

p.V284V

c.852G>A

1 paper

NM_001048174.2

p.E285*

c.853G>T