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.Q286Q

c.858G>A

Surrounding Variants

1 paper

NM_001048174.2

p.Q286H

c.858G>T

1 paper

NM_001048174.2

p.Q286L

c.857A>T

9 papers

NM_012222.3

p.Q311*

c.931C>T

NM_001128425.2

p.Q314*

c.940C>T

NM_001048174.2

p.Q286*

c.856C>T

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.E285D

c.855G>T

1 paper

NM_001048174.2

p.E287D

c.861A>T

1 paper

NM_001048174.2

p.E287D

c.861A>C

1 paper

NM_001048174.2

p.E285V

c.854A>T

2 papers

NM_001048174.2

p.E285G

c.854A>G

1 paper

NM_001048174.2

p.V284delFs

c.852delC

1 paper

NM_001048174.2

p.E285*

c.853G>T