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.S153_R156delFs

c.457_467del11

Surrounding Variants

1 paper

NM_001048174.2

p.R156L

c.467G>T

21 papers

NM_001048174.2

p.R156Q

c.467G>A

NM_012222.3

p.R181Q

c.542G>A

NM_001128425.2

p.R184Q

c.551G>A

9 papers

NM_001048174.2

p.R157W

c.469C>T

NM_001128425.2

p.R185W

c.553C>T

1 paper

NM_001048174.2

p.R157R

c.469C>A

1 paper

NM_001048174.2

p.R157L

c.470G>T

4 papers

NM_001048174.2

p.R157Q

c.470G>A

1 paper

NM_001048174.2

p.R156fs

c.466_467fs

4 papers

NM_001048174.2

p.R156W

c.466C>T

NM_001128425.2

p.R184W

c.550C>T

1 paper

NM_001048174.2

p.R156R

c.466C>A

4 papers

NM_001048174.2

p.G155D

c.464G>A

3 papers

NM_001048174.2

p.L158L

c.472C>T

1 paper

NM_001048174.2

p.L158P

c.473T>C