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.V8L

c.22G>T

Surrounding Variants

1 paper

NM_001048174.2

p.V8L

c.22G>C

36 papers

NM_001128425.2

p.V22M

c.64G>A

NM_001048174.2

p.V8M

c.22G>A

1 paper

NM_001048174.2

p.A7_V8Fs

c.21_22delinsTFs

1 paper

NM_001048174.2

p.R5_A7del3

c.13_20del9

1 paper

NM_001048174.2

p.V8G

c.23T>G

1 paper

NM_001048174.2

p.V8A

c.23T>C

1 paper

NM_001048174.2

p.V8E

c.23T>A

1 paper

NM_001048174.2

p.A7A

c.21C>T

1 paper

NM_001048174.2

p.A7A

c.21C>G

1 paper

NM_001048174.2

p.A7A

c.21C>A

1 paper

NM_001048174.2

p.V8V

c.24G>T

1 paper

NM_001048174.2

p.V8V

c.24G>C