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.Q23R

c.68A>G

Surrounding Variants

1 paper

NM_001048174.2

p.Q23L

c.68A>T

1 paper

NM_001048174.2

p.Q23P

c.68A>C

1 paper

NM_001048174.2

p.Q23H

c.69G>T

1 paper

NM_001048174.2

p.Q23H

c.69G>C

2 papers

NM_001048174.2

p.Q23Q

c.69G>A

1 paper

NM_001048174.2

p.Q23*

c.67C>T

1 paper

NM_001048174.2

p.Q23E

c.67C>G

1 paper

NM_001048174.2

p.Q23K

c.67C>A

1 paper

NM_001048174.2

p.S18_R22delFs

c.53_66del14

2 papers

NM_001048174.2

p.R22S

c.66G>T

1 paper

NM_001048174.2

p.R22insFs

c.64_65ins8

2 papers

NM_001048174.2

p.R22S

c.66G>C