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.C37_D38insCC

c.109_113ins6

Surrounding Variants

1 paper

NM_001048174.2

p.C37G

c.109T>G

1 paper

NM_001048174.2

p.C37R

c.109T>C

1 paper

NM_001048174.2

p.C37S

c.109T>A

2 papers

NM_001048174.2

p.C37F

c.110G>T

2 papers

NM_001048174.2

p.C37S

c.110G>C

1 paper

NM_001048174.2

p.C37Y

c.110G>A

1 paper

NM_001048174.2

p.A36A

c.108C>T

1 paper

NM_001048174.2

p.A36A

c.108C>G

1 paper

NM_001048174.2

p.A36A

c.108C>A

1 paper

NM_001048174.2

p.C37W

c.111T>G

1 paper

NM_001048174.2

p.C37C

c.111T>C

1 paper

NM_001048174.2

p.C37*

c.111T>A