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

4 papers

NM_001048174.2

p.R409W

c.1225C>T

NM_001350650.2

p.R294W

c.880C>T

Surrounding Variants

1 paper

NM_001048174.2

p.R409fs

c.1225_1226fs

1 paper

NM_001048174.2

p.R409insFs

c.1225_1226insGG

2 papers

NM_001048174.2

p.R409Q

c.1226G>A

1 paper

NM_001048174.2

p.R409delins

c.1225_1226delinsTT

1 paper

NM_001048174.2

p.L408delFs

c.1224delG

1 paper

NM_001048174.2

p.R409R

c.1227G>A

1 paper

NM_001048174.2

p.H410Y

c.1228C>T

1 paper

NM_001128425.2

p.L436V

c.1306C>G

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.H407Q

c.1221C>G

1 paper

NM_001048174.2

p.H407_L408insFs

c.1221_1222insAG