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.A16G

c.47C>G

Surrounding Variants

2 papers

NM_001048174.2

p.A16V

c.47C>T

1 paper

NM_001048174.2

p.Q15insFs

c.45dupG

2 papers

NM_001048174.2

p.A16E

c.47C>A

1 paper

NM_001048174.2

p.A16delFs

c.46delC

1 paper

NM_001048174.2

p.A16S

c.46G>T

1 paper

NM_001048174.2

p.R2_Q15ins4

c.4_45dup42

1 paper

NM_001048174.2

p.A16P

c.46G>C

1 paper

NM_001048174.2

p.A16T

c.46G>A

1 paper

NM_001048174.2

p.A16A

c.48A>T

2 papers

NM_001048174.2

p.A16A

c.48A>G

NM_001128425.2

p.A30A

c.90A>G

1 paper

NM_001048174.2

p.A16A

c.48A>C

2 papers

NM_001048174.2

p.A17S

c.49G>T