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.Q31H

c.93G>C

Surrounding Variants

1 paper

NM_001048174.2

p.Q31H

c.93G>T

10 papers

NM_001048174.2

p.Q31Q

c.93G>A

2 papers

NM_001048174.2

p.A32S

c.94G>T

1 paper

NM_001048174.2

p.A32P

c.94G>C

3 papers

NM_001128425.2

p.A46T

c.136G>A

NM_001048174.2

p.A32T

c.94G>A

1 paper

NM_001048174.2

p.Q31L

c.92A>T

1 paper

NM_001048174.2

p.Q31R

c.92A>G

1 paper

NM_001048174.2

p.Q31P

c.92A>C

1 paper

NM_001048174.2

p.Q31insFs

c.92_93insT

2 papers

NM_001048174.2

p.A32V

c.95C>T

1 paper

NM_001048174.2

p.Q31*

c.91C>T

3 papers

NM_001048174.2

p.A32G

c.95C>G