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

3 papers

NM_001128425.2

p.P465_V466del1

c.1395_1397delACT

Surrounding Variants

1 paper

NM_001048174.2

p.V438V

c.1314G>T

1 paper

NM_001048174.2

p.V438insFs

c.1313dupT

2 papers

NM_012222.3

p.V463V

c.1389G>C

1 paper

NM_001048174.2

p.V438delFs

c.1312delC

2 papers

NM_001048174.2

p.T439A

c.1315A>G

1 paper

NM_001048174.2

p.V438L

c.1312G>T

1 paper

NM_001048174.2

p.T439I

c.1316C>T

1 paper

NM_001048174.2

p.P437R

c.1310C>G

2 papers

NM_001048174.2

p.P437S

c.1309C>T

2 papers

NM_001048174.2

p.P437A

c.1309C>G

2 papers

NM_012222.3

p.V466L

c.1396G>T

NM_001048174.2

p.V441L

c.1321G>T

1 paper

NM_001048174.2

p.V441L

c.1321G>C