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.Q426delFs

c.1277_1278delTT

Surrounding Variants

1 paper

NM_001048174.2

p.V427L

c.1279G>T

1 paper

NM_001048174.2

p.V427I

c.1279G>A

3 papers

NM_001048174.2

p.Q426P

c.1277A>C

NM_001128425.2

p.Q454P

c.1361A>C

19 papers

NM_001048174.2

p.Q426*

c.1276C>T

1 paper

NM_001048174.2

p.Y425Y

c.1275T>C

1 paper

NM_001048174.2

p.Y425C

c.1274A>G

1 paper

NM_001128425.2

p.T452delFs

c.1356delT

1 paper

NM_001128425.2

p.Y453fs

c.1357_1358fs

5 papers

NM_001128425.2

p.G457W

c.1369G>T

NM_001048174.2

p.G429W

c.1285G>T

1 paper

NM_001048174.2

p.G429R

c.1285G>C

1 paper

NM_001048174.2

p.G429V

c.1286G>T

1 paper

NM_012222.3

p.T449T

c.1347A>G