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

47 papers

NM_001048174.2

p.E452del1

c.1354_1355delTTC

NM_001128425.2

p.E480del1

c.1438_1439delTTC

Surrounding Variants

1 paper

NM_001048174.2

p.E452delFs

c.1356delT

2 papers

NM_001128425.2

p.E479_E480del2

c.1435_1439del6

NM_001048174.2

p.E451_E452del2

c.1351_1355del6

1 paper

NM_001048174.2

p.E452E

c.1356A>G

44 papers

NM_001293190.2

p.E466_E467del1

c.1398_1400delTCC

NM_001128425.2

p.E479_E480del1

c.1437_1439delTCC

NM_001048174.2

p.E451_E452del1

c.1353_1355delTCC

3 papers

NM_001048174.2

p.F453L

c.1359T>G

1 paper

NM_001048174.2

p.E452V

c.1355A>T

30 papers

NM_001293190.2

p.E467*

c.1399G>T

NM_001128425.2

p.E480*

c.1438G>T

NM_012222.3

p.E477*

c.1429G>T

NM_001048174.2

p.E452*

c.1354G>T

1 paper

NM_001048174.2

p.E452Q

c.1354G>C

1 paper

NM_001048174.2

p.H454_T455insC

c.1360_1364ins3

1 paper

NM_001048174.2

p.E451Fs

c.1352delinsACFs

1 paper

NM_001128425.2

p.E479fs

c.1435_1436fs

1 paper

NM_001048174.2

p.H454P

c.1361A>C