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.K27N

c.81G>T

Surrounding Variants

1 paper

NM_001048174.2

p.K27insFs

c.79dupA

1 paper

NM_001048174.2

p.K27N

c.81G>C

2 papers

NM_001048174.2

p.K27K

c.81G>A

9 papers

NM_001048174.2

p.K27M

c.80A>T

1 paper

NM_001048174.2

p.N28Y

c.82A>T

2 papers

NM_001048174.2

p.N28D

c.82A>G

2 papers

NM_001048174.2

p.K27R

c.80A>G

1 paper

NM_001048174.2

p.N28H

c.82A>C

1 paper

NM_001048174.2

p.K27T

c.80A>C

3 papers

NM_001048174.2

p.N28I

c.83A>T

1 paper

NM_001048174.2

p.K27*

c.79A>T

3 papers

NM_001048174.2

p.K27E

c.79A>G