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

2 papers

NM_001048174.2

p.P34R

c.101C>G

Surrounding Variants

4 papers

NM_001048174.2

p.P34L

c.101C>T

2 papers

NM_001048174.2

p.P34H

c.101C>A

1 paper

NM_001048174.2

p.P34P

c.102T>G

1 paper

NM_001048174.2

p.P34P

c.102T>C

1 paper

NM_001048174.2

p.P34P

c.102T>A

1 paper

NM_001048174.2

p.P34delFs

c.101delG

2 papers

NM_001048174.2

p.P34S

c.100C>T

2 papers

NM_001048174.2

p.P34A

c.100C>G

1 paper

NM_001048174.2

p.P34insFs

c.100_101insG

1 paper

NM_001048174.2

p.P34T

c.100C>A

1 paper

NM_001048174.2

p.S35A

c.103T>G

2 papers

NM_001048174.2

p.S35P

c.103T>C