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.Q15R

c.44A>G

Surrounding Variants

1 paper

NM_001048174.2

p.Q15L

c.44A>T

1 paper

NM_001048174.2

p.Q15P

c.44A>C

2 papers

NM_001048174.2

p.Q15H

c.45G>T

1 paper

NM_001048174.2

p.Q15H

c.45G>C

3 papers

NM_001048174.2

p.Q15Q

c.45G>A

8 papers

NM_001128425.2

p.Q29*

c.85C>T

NM_001048174.2

p.Q15*

c.43C>T

1 paper

NM_001048174.2

p.Q15E

c.43C>G

2 papers

NM_001048174.2

p.Q15K

c.43C>A

1 paper

NM_001048174.2

p.K14delFs

c.41_42delCT

1 paper

NM_001048174.2

p.G11_K14delFs

c.31_41del11

1 paper

NM_001048174.2

p.A16S

c.46G>T

1 paper

NM_001048174.2

p.K14N

c.42G>T