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.C304delFs

c.911delC

Surrounding Variants

2 papers

NM_001048174.2

p.C304S

c.911G>C

2 papers

NM_001048174.2

p.C304Y

c.911G>A

3 papers

NM_001048174.2

p.C304S

c.910T>A

1 paper

NM_001128425.2

p.E330_E331del1

c.989_991delCCT

2 papers

NM_001048174.2

p.E303E

c.909G>A

1 paper

NM_001128425.2

p.E331_C332insTA

c.991_995ins6

2 papers

NM_001048174.2

p.E303K

c.907G>A

NM_001128425.2

p.E331K

c.991G>A

1 paper

NM_001048174.2

p.E302D

c.906G>T

1 paper

NM_001048174.2

p.E302D

c.906G>C

1 paper

NM_001128425.2

p.A333Splc

c.997+5G>A

1 paper

NM_001048174.2

p.E302Q

c.904G>C

2 papers

NM_001048174.2

p.E302K

c.904G>A