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.S294delFs

c.880delT

Surrounding Variants

2 papers

NM_012222.3

p.S319T

c.956G>C

NM_001048174.2

p.S294T

c.881G>C

3 papers

NM_001048174.2

p.S294N

c.881G>A

NM_001128425.2

p.S322N

c.965G>A

1 paper

NM_001048174.2

p.L290_S294delFs

c.870_880del11

1 paper

NM_001048174.2

p.S294S

c.882C>T

1 paper

NM_001048174.2

p.S294R

c.882C>G

1 paper

NM_001048174.2

p.S294R

c.882C>A

1 paper

NM_001048174.2

p.S294R

c.880A>C

2 papers

NM_001048174.2

p.G293delFs

c.879delC

1 paper

NM_012222.3

p.V309_G318del10

c.925_953del30

2 papers

NM_001128425.2

p.G321G

c.963G>A

NM_001048174.2

p.G293G

c.879G>A

3 papers

NM_001048174.2

p.L295L

c.883C>T

1 paper

NM_001048174.2

p.L295V

c.883C>G