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.H416_K422delFs

c.1247_1266del20

Surrounding Variants

4 papers

NM_001048174.2

p.L423L

c.1267C>T

1 paper

NM_001048174.2

p.L423ins5

c.1267_1268ins15

1 paper

NM_001048174.2

p.L423_T424insFs

c.1269_1270insT

1 paper

NM_001048174.2

p.L423L

c.1269G>A

1 paper

NM_001048174.2

p.K422M

c.1265A>T

1 paper

NM_001048174.2

p.I421M

c.1263C>G

1 paper

NM_001048174.2

p.I421S

c.1262T>G

1 paper

NM_012222.3

p.T449T

c.1347A>G

1 paper

NM_001128425.2

p.T452delFs

c.1356delT

1 paper

NM_001128425.2

p.Y453fs

c.1357_1358fs

1 paper

NM_001048174.2

p.Y425C

c.1274A>G

1 paper

NM_001048174.2

p.Y425Y

c.1275T>C