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_012222.3

p.L254F

c.760C>T

Surrounding Variants

1 paper

NM_001048174.2

p.L229R

c.686T>G

2 papers

NM_001048174.2

p.L229P

c.686T>C

1 paper

NM_012222.3

p.L254delFs

c.760delG

1 paper

NM_012222.3

p.V255fs

c.763_764fs

1 paper

NM_001048174.2

p.V230F

c.688G>T

1 paper

NM_001128425.2

p.V258I

c.772G>A

1 paper

NM_001048174.2

p.V230A

c.689T>C

2 papers

NM_001048174.2

p.S227I

c.680G>T

3 papers

NM_012222.3

p.S252N

c.755G>A

NM_001048174.2

p.S227N

c.680G>A

1 paper

NM_001048174.2

p.S227delFs

c.679delT

1 paper

NM_001048174.2

p.S231F

c.692C>T

1 paper

NM_001048174.2

p.S231delFs

c.691delA