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

2 papers

NM_001048174.2

p.L234F

c.700C>T

Surrounding Variants

1 paper

NM_001128425.2

p.L262insFs

c.785_786insG

1 paper

NM_001048174.2

p.L234H

c.701T>A

1 paper

NM_001128425.2

p.Q261delFs

c.781delG

1 paper

NM_001048174.2

p.L234delFs

c.702delG

1 paper

NM_001128425.2

p.W263fs

c.787_788fs

1 paper

NM_001128425.2

p.Q261fs

c.781_782fs

5 papers

NM_001048174.2

p.Q233*

c.697C>T

1 paper

NM_001048174.2

p.Q233K

c.697C>A

1 paper

NM_001048174.2

p.W235S

c.704G>C

1 paper

NM_001048174.2

p.W235*

c.704G>A

1 paper

NM_012222.3

p.W260delFs

c.778delA

7 papers

NM_001048174.2

p.Q232*

c.694C>T