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.K24T

c.71A>C

Surrounding Variants

1 paper

NM_001048174.2

p.K24M

c.71A>T

1 paper

NM_001048174.2

p.K24R

c.71A>G

6 papers

NM_001048174.2

p.Q23delFs

c.68_69delCT

2 papers

NM_001048174.2

p.K24N

c.72G>T

1 paper

NM_001048174.2

p.K24N

c.72G>C

1 paper

NM_001048174.2

p.K24K

c.72G>A

2 papers

NM_001048174.2

p.K24*

c.70A>T

2 papers

NM_001048174.2

p.K24E

c.70A>G

2 papers

NM_001048174.2

p.K24Q

c.70A>C

1 paper

NM_001128425.2

p.Q33_R36del4

c.97_107del12

1 paper

NM_001048174.2

p.G11_Q23del13

c.31_68del39

1 paper

NM_001048174.2

p.Q23H

c.69G>T