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

1–12 of 2989 variants

123 papers

NM_001128425.2

p.G396D

c.1187G>A

99 papers

NM_001128425.2

p.Y179C

c.536A>G

71 papers

NM_001048174.2

p.G368D

c.1103G>A

52 papers

NM_001048174.2

p.Y151C

c.452A>G

46 papers

NM_001048174.2

p.Q19*

c.55C>T

40 papers

NM_001048174.2

p.P383delFs

c.1147delG

32 papers

NM_001048174.2

p.R283_V284Splc

c.850-2A>G

30 papers

NM_001128425.2

p.E480del1

c.1438_1439delTTC

29 papers

NM_001128425.2

p.E479_E480del1

c.1437_1439delTCC

27 papers

NM_001048174.2

p.R217H

c.650G>A

26 papers

NM_001128425.2

p.W409_E410insFs

c.1227_1228dupGG

25 papers

NM_001048174.2

p.R409_H410insFs

c.1227_1228dupGC