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.Q144K

c.430C>A

Surrounding Variants

1 paper

NM_001048174.2

p.Q144*

c.430C>T

1 paper

NM_001048174.2

p.Q144_L145ins5

c.430_434ins15

1 paper

NM_001048174.2

p.Q144fs

c.430_431fs

1 paper

NM_012222.3

p.L170F

c.508C>T

1 paper

NM_001048174.2

p.L145V

c.433C>G

1 paper

NM_001048174.2

p.L145I

c.433C>A

1 paper

NM_001128425.2

p.N171_Q172delFs

c.513_516del4

1 paper

NM_001048174.2

p.N143D

c.427A>G

2 papers

NM_001128425.2

p.L173R

c.518T>G

NM_001048174.2

p.L145R

c.434T>G

2 papers

NM_001128425.2

p.L173P

c.518T>C

NM_001048174.2

p.L145P

c.434T>C

1 paper

NM_001048174.2

p.L145delFs

c.433delG

1 paper

NM_001048174.2

p.V142V

c.426G>T