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.Q227_A228Splc

c.682-1G>A

Surrounding Variants

1 paper

NM_001048174.2

p.A203S

c.607G>T

1 paper

NM_001048174.2

p.A203T

c.607G>A

1 paper

NM_001048174.2

p.Q202_A203Splc

c.607-2A>C

1 paper

NM_001048174.2

p.A203V

c.608C>T

1 paper

NM_001048174.2

p.A203G

c.608C>G

1 paper

NM_001048174.2

p.T204fs

c.610_611fs

1 paper

NM_001128425.2

p.T232S

c.694A>T

1 paper

NM_001128425.2

p.T232I

c.695C>T

1 paper

NM_001128425.2

p.T232S

c.695C>G

1 paper

NM_001048174.2

p.T204fs

c.610_611fs

2 papers

NM_001048174.2

p.T204T

c.612C>A

1 paper

NM_001048174.2

p.A203_T204del1

c.609_611delGTT