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.S298G

c.892A>G

Surrounding Variants

3 papers

NM_001128425.2

p.S326C

c.976A>T

1 paper

NM_001048174.2

p.G297V

c.890G>T

2 papers

NM_012222.3

p.G322A

c.965G>C

NM_001048174.2

p.G297A

c.890G>C

1 paper

NM_001048174.2

p.G297S

c.889G>A

2 papers

NM_012222.3

p.P324S

c.970C>T

1 paper

NM_001048174.2

p.S296S

c.888G>T

3 papers

NM_001128425.2

p.S324S

c.972G>C

NM_001048174.2

p.S296S

c.888G>C

1 paper

NM_001048174.2

p.P299R

c.896C>G

1 paper

NM_001048174.2

p.P299delFs

c.895_896delGG

1 paper

NM_001048174.2

p.S296*

c.887C>A

1 paper

NM_001048174.2

p.D300Y

c.898G>T

1 paper

NM_001048174.2

p.D300H

c.898G>C