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.Q19H

c.57G>T

Surrounding Variants

1 paper

NM_001048174.2

p.Q19H

c.57G>C

2 papers

NM_001048174.2

p.Q19Q

c.57G>A

2 papers

NM_001048174.2

p.E20*

c.58G>T

2 papers

NM_001048174.2

p.E20Q

c.58G>C

2 papers

NM_001048174.2

p.E20K

c.58G>A

1 paper

NM_001048174.2

p.Q19L

c.56A>T

1 paper

NM_001048174.2

p.Q19R

c.56A>G

1 paper

NM_001048174.2

p.Q19P

c.56A>C

1 paper

NM_001048174.2

p.Q19insFs

c.55dupC

1 paper

NM_001048174.2

p.Q19ins1

c.56_57insGCC

46 papers

NM_001048174.2

p.Q19*

c.55C>T

1 paper

NM_001048174.2

p.Q19E

c.55C>G