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.G412G

c.1236G>T

Surrounding Variants

2 papers

NM_001048174.2

p.G412E

c.1235G>A

1 paper

NM_001048174.2

p.E413D

c.1239G>T

1 paper

NM_001048174.2

p.E413insFs

c.1238_1239insA

1 paper

NM_001048174.2

p.E413D

c.1239G>C

1 paper

NM_001048174.2

p.H410_L411insFs

c.1230_1231dupCC

1 paper

NM_001048174.2

p.L411P

c.1232T>C

2 papers

NM_001048174.2

p.L411F

c.1231C>T

1 paper

NM_001048174.2

p.L411I

c.1231C>A

1 paper

NM_001048174.2

p.H410fs

c.1228_1229fs

1 paper

NM_001048174.2

p.E413_V414Splc

c.1239+3A>G

1 paper

NM_001048172.2

p.H411L

c.1232A>T

1 paper

NM_001048174.2

p.H410R

c.1229A>G