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.P4A

c.10C>G

Surrounding Variants

2 papers

NM_001048174.2

p.P4S

c.10C>T

1 paper

NM_001048174.2

p.K3insFs

c.9dupG

1 paper

NM_001048174.2

p.P4T

c.10C>A

1 paper

NM_001048174.2

p.M1_K3del3

c.1_8del9

1 paper

NM_001048174.2

p.P4fs

c.10_11fs

2 papers

NM_001048174.2

p.K3N

c.9G>T

1 paper

NM_001048174.2

p.K3delins

c.8delinsATTT

1 paper

NM_001048174.2

p.K3Fs

c.8delinsATTTCFs

1 paper

NM_001048174.2

p.K3insFs

c.8dupA

1 paper

NM_001048174.2

p.K3N

c.9G>C

2 papers

NM_001048174.2

p.K3K

c.9G>A

1 paper

NM_001048174.2

p.M1_K3delFs

c.1_8del8