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.R2W

c.4A>T

Surrounding Variants

2 papers

NM_001048174.2

p.R2G

c.4A>G

1 paper

NM_001048174.2

p.R2R

c.4A>C

1 paper

NM_001048174.2

p.R2insFs

c.4_5insCT

1 paper

NM_001048174.2

p.M1insFs

c.3dupG

1 paper

NM_001048174.2

p.M1insFs

c.2_3dupTG

1 paper

NM_001048174.2

p.M1delFs

c.3delC

6 papers

NM_001048174.2

p.M1I

c.3G>T

NM_001128425.2

p.M15I

c.45G>T

3 papers

NM_001048174.2

p.R2M

c.5G>T

3 papers

NM_001048174.2

p.M1insFs

c.2dupT

1 paper

NM_001048174.2

p.M1insFs

c.1_2dupAT

1 paper

NM_001048174.2

p.R2insFs

c.5_6insTC

1 paper

NM_001048174.2

p.M1fs

c.1_2fs