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

24 papers

NM_001048174.2

p.R154H

c.461G>A

NM_001128425.2

p.R182H

c.545G>A

NM_012222.3

p.R179H

c.536G>A

Surrounding Variants

4 papers

NM_001048174.2

p.R154L

c.461G>T

2 papers

NM_001048174.2

p.R154P

c.461G>C

1 paper

NM_001048174.2

p.R154R

c.462T>C

1 paper

NM_001048174.2

p.R154R

c.462T>A

15 papers

NM_012222.3

p.R179C

c.535C>T

NM_001128425.2

p.R182C

c.544C>T

NM_001048174.2

p.R154C

c.460C>T

1 paper

NM_001128425.2

p.R182G

c.544C>G

2 papers

NM_001048174.2

p.Y151_S153ins1

c.453_458dup6

1 paper

NM_001048174.2

p.G155C

c.463G>T

1 paper

NM_001048174.2

p.G155R

c.463G>C

2 papers

NM_001048174.2

p.G155S

c.463G>A

4 papers

NM_001048174.2

p.G155D

c.464G>A

2 papers

NM_001048174.2

p.S153F

c.458C>T