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.T417I

c.1250C>T

Surrounding Variants

1 paper

NM_001048174.2

p.T417N

c.1250C>A

1 paper

NM_001048174.2

p.T417_F418delins

c.1251_1252delinsTT

1 paper

NM_001048174.2

p.H416H

c.1248C>T

1 paper

NM_001048174.2

p.H416Q

c.1248C>G

2 papers

NM_001048174.2

p.H416Q

c.1248C>A

2 papers

NM_001048174.2

p.H416R

c.1247A>G

2 papers

NM_001048174.2

p.H416Y

c.1246C>T

1 paper

NM_001048174.2

p.H416D

c.1246C>G

1 paper

NM_001048174.2

p.H416_T417ins6

c.1246_1250ins18

1 paper

NM_001048174.2

p.F418delFs

c.1252_1253delAA

2 papers

NM_001048174.2

p.S419F

c.1256C>T

1 paper

NM_001048174.2

p.S419C

c.1256C>G