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.S18R

c.52A>C

Surrounding Variants

1 paper

NM_001048174.2

p.S18C

c.52A>T

1 paper

NM_001048174.2

p.S18G

c.52A>G

1 paper

NM_001048174.2

p.S18_Q19insGCG

c.52_56ins9

1 paper

NM_012222.3

p.Q29_A31delFs

c.87_93del7

1 paper

NM_001048174.2

p.S18I

c.53G>T

3 papers

NM_001048174.2

p.S18T

c.53G>C

1 paper

NM_001048174.2

p.S18N

c.53G>A

1 paper

NM_001048174.2

p.A17A

c.51C>T

1 paper

NM_001048174.2

p.A17A

c.51C>G

1 paper

NM_001048174.2

p.A17A

c.51C>A

3 papers

NM_001048174.2

p.A17V

c.50C>T

2 papers

NM_001048174.2

p.S18S

c.54C>T