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_001128425.2

p.L317P

c.950T>C

NM_001048174.2

p.L289P

c.866T>C

Surrounding Variants

1 paper

NM_001048174.2

p.Q286_Q288del3

c.856_863del9

1 paper

NM_001128425.2

p.L317F

c.949C>T

1 paper

NM_001048174.2

p.L289fs

c.865_866fs

1 paper

NM_001048174.2

p.Q288H

c.864G>C

1 paper

NM_001048174.2

p.L289_L290insFs

c.867_868dupCT

1 paper

NM_001048174.2

p.L290S

c.869T>C

1 paper

NM_001048174.2

p.L290fs

c.868_869fs

1 paper

NM_001048174.2

p.E287D

c.861A>T

1 paper

NM_001048174.2

p.E287D

c.861A>C

2 papers

NM_001048174.2

p.E287delFs

c.859delC

1 paper

NM_001128425.2

p.V312_Q314del0

c.934_942del9

1 paper

NM_001048174.2

p.A291A

c.873C>T