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

40 papers

NM_001048174.2

p.P383delFs

c.1147delG

Surrounding Variants

2 papers

NM_001128425.2

p.E410_P411insFs

c.1230_1231dupGC

NM_001048174.2

p.E382_P383insFs

c.1146_1147dupGC

1 paper

NM_001048174.2

p.E385*

c.1153G>T

1 paper

NM_001048174.2

p.E385K

c.1153G>A

1 paper

NM_012222.3

p.E410fs

c.1228_1229fs

1 paper

NM_001048174.2

p.P383S

c.1147C>T

1 paper

NM_001048174.2

p.E382D

c.1146G>T

10 papers

NM_001048174.2

p.E382fs

c.1144_1145fs

NM_001128425.2

p.E410fs

c.1228_1229fs

1 paper

NM_001048174.2

p.E382D

c.1146G>C

1 paper

NM_001048174.2

p.E385delFs

c.1153delC

1 paper

NM_001048174.2

p.E385E

c.1155G>A

1 paper

NM_001048174.2

p.E382G

c.1145A>G

3 papers

NM_001128425.2

p.E410insFs

c.1228dupG