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.S30N

c.89G>A

Surrounding Variants

1 paper

NM_001048174.2

p.S30I

c.89G>T

1 paper

NM_001048174.2

p.S30T

c.89G>C

1 paper

NM_001048174.2

p.S30R

c.90T>G

1 paper

NM_001048174.2

p.S30S

c.90T>C

1 paper

NM_001048174.2

p.S30R

c.90T>A

1 paper

NM_001048174.2

p.S30C

c.88A>T

1 paper

NM_001048174.2

p.S30G

c.88A>G

1 paper

NM_001048174.2

p.S30R

c.88A>C

1 paper

NM_001048174.2

p.Q31*

c.91C>T

1 paper

NM_001048174.2

p.N29N

c.87C>T

1 paper

NM_001048174.2

p.Q31E

c.91C>G

1 paper

NM_001048174.2

p.N29K

c.87C>G