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.K390N

c.1170G>T

Surrounding Variants

1 paper

NM_001048174.2

p.K390N

c.1170G>C

1 paper

NM_001048174.2

p.A391S

c.1171G>T

1 paper

NM_001048174.2

p.A391P

c.1171G>C

1 paper

NM_001048174.2

p.A391T

c.1171G>A

1 paper

NM_001048174.2

p.K390del1

c.1168_1170delCTT

4 papers

NM_001048174.2

p.A391V

c.1172C>T

1 paper

NM_001048174.2

p.A391D

c.1172C>A

1 paper

NM_001048174.2

p.Q388_R389del2

c.1162_1166del6

1 paper

NM_001048174.2

p.A391A

c.1173C>T

2 papers

NM_001128425.2

p.R417H

c.1250G>A

NM_001048174.2

p.R389H

c.1166G>A

1 paper

NM_001048174.2

p.L392V

c.1174C>G

14 papers

NM_001128425.2

p.L420M

c.1258C>A

NM_001048174.2

p.L392M

c.1174C>A