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

25 papers

NM_001048174.2

p.R409_H410insFs

c.1227_1228dupGC

Surrounding Variants

1 paper

NM_001048172.2

p.H411L

c.1232A>T

1 paper

NM_001048174.2

p.H410R

c.1229A>G

1 paper

NM_001048174.2

p.H410insFs

c.1229_1230insGG

2 papers

NM_001048174.2

p.H410insFs

c.1228dupC

1 paper

NM_001048174.2

p.H410Y

c.1228C>T

1 paper

NM_001048174.2

p.R409insFs

c.1227dupG

8 papers

NM_001048174.2

p.H410insFs

c.1228_1229insGG

1 paper

NM_001048174.2

p.H410fs

c.1228_1229fs

1 paper

NM_001048174.2

p.R409R

c.1227G>A

2 papers

NM_001048174.2

p.L411F

c.1231C>T

1 paper

NM_001048174.2

p.L411I

c.1231C>A

1 paper

NM_001048174.2

p.H410_L411insFs

c.1230_1231dupCC