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.V458V

c.1374T>G

Surrounding Variants

1 paper

NM_001048174.2

p.V458D

c.1373T>A

1 paper

NM_001048174.2

p.V458F

c.1372G>T

1 paper

NM_001048174.2

p.V458I

c.1372G>A

5 papers

NM_001048174.2

p.S459F

c.1376C>T

NM_001128425.2

p.S487F

c.1460C>T

1 paper

NM_001048174.2

p.S459C

c.1376C>G

1 paper

NM_001048174.2

p.S459Y

c.1376C>A

1 paper

NM_001048174.2

p.S459delins

c.1376_1377delinsTT

1 paper

NM_001128425.2

p.S487insFs

c.1460_1461dupCC

2 papers

NM_001128425.2

p.S487delFs

c.1461delG

1 paper

NM_001048174.2

p.A457T

c.1369G>A

1 paper

NM_001048174.2

p.A456A

c.1368A>C

3 papers

NM_001128425.2

p.A489T

c.1465G>A

NM_001048174.2

p.A461T

c.1381G>A