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.V207L

c.619G>C

Surrounding Variants

4 papers

NM_001048174.2

p.V207L

c.619G>T

NM_012222.3

p.V232L

c.694G>T

2 papers

NM_001048174.2

p.V207M

c.619G>A

1 paper

NM_001048174.2

p.V206G

c.617T>G

1 paper

NM_001048174.2

p.V206A

c.617T>C

1 paper

NM_012222.3

p.V232insFs

c.695dupT

1 paper

NM_001048174.2

p.V207V

c.621G>A

1 paper

NM_001048174.2

p.V206L

c.616G>T

1 paper

NM_012222.3

p.D233H

c.697G>C

11 papers

NM_001128425.2

p.V234M

c.700G>A

NM_001048174.2

p.V206M

c.616G>A

NM_012222.3

p.V231M

c.691G>A

10 papers

NM_001048174.2

p.D208N

c.622G>A

1 paper

NM_001048174.2

p.D208V

c.623A>T

1 paper

NM_001048174.2

p.G205V

c.614G>T