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.A371P

c.1111G>C

Surrounding Variants

2 papers

NM_001048174.2

p.A371S

c.1111G>T

3 papers

NM_001048174.2

p.A371T

c.1111G>A

4 papers

NM_001048174.2

p.A371fs

c.1111_1112fs

1 paper

NM_001048174.2

p.A371G

c.1112C>G

5 papers

NM_012222.3

p.A396insFs

c.1186_1187insGG

4 papers

NM_001048174.2

p.A371fs

c.1111_1112fs

1 paper

NM_001048174.2

p.G372R

c.1114G>A

1 paper

NM_001048174.2

p.L369L

c.1107G>T

1 paper

NM_001048174.2

p.L369P

c.1106T>C

11 papers

NM_001048174.2

p.L369delFs

c.1105delG

4 papers

NM_001048174.2

p.L369L

c.1105C>T

1 paper

NM_001048174.2

p.L369M

c.1105C>A