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.G429_L430delFs

c.1287_1288delGC

Surrounding Variants

1 paper

NM_001048174.2

p.V427_L430delFs

c.1280_1289del10

1 paper

NM_001048174.2

p.G429G

c.1287G>T

1 paper

NM_001048174.2

p.G429V

c.1286G>T

2 papers

NM_001048174.2

p.A431V

c.1292C>T

1 paper

NM_001048174.2

p.A431G

c.1292C>G

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.L432V

c.1294T>G

2 papers

NM_001048174.2

p.L432W

c.1295T>G

NM_001128425.2

p.L460W

c.1379T>G

1 paper

NM_001048174.2

p.E433V

c.1298A>T

3 papers

NM_001048174.2

p.E433A

c.1298A>C

1 paper

NM_001048174.2

p.V427L

c.1279G>T