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.W374*

c.1121G>A

Surrounding Variants

1 paper

NM_001048174.2

p.W374C

c.1122G>C

2 papers

NM_001048174.2

p.W374*

c.1122G>A

2 papers

NM_001048174.2

p.E375*

c.1123G>T

1 paper

NM_001048174.2

p.E375_F376insGTC

c.1123_1127ins9

1 paper

NM_001048174.2

p.L373P

c.1118T>C

1 paper

NM_012222.3

p.L398delFs

c.1192delG

1 paper

NM_001048174.2

p.G372R

c.1114G>A

7 papers

NM_001048174.2

p.P377S

c.1129C>T

NM_012222.3

p.P402S

c.1204C>T

NM_001128425.2

p.P405S

c.1213C>T

4 papers

NM_001048174.2

p.A371fs

c.1111_1112fs

38 papers

NM_001128425.2

p.P405L

c.1214C>T

NM_001293190.2

p.P392L

c.1175C>T

NM_012222.3

p.P402L

c.1205C>T

NM_001048174.2

p.P377L

c.1130C>T

1 paper

NM_001048174.2

p.A371G

c.1112C>G

5 papers

NM_012222.3

p.A396insFs

c.1186_1187insGG