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.Q388E

c.1162C>G

Surrounding Variants

7 papers

NM_001128425.2

p.Q416*

c.1246C>T

NM_001048174.2

p.Q388*

c.1162C>T

1 paper

NM_001048174.2

p.L387L

c.1161T>G

1 paper

NM_001048174.2

p.Q388R

c.1163A>G

3 papers

NM_001048174.2

p.Q388H

c.1164G>T

3 papers

NM_001048174.2

p.Q388H

c.1164G>C

1 paper

NM_001048174.2

p.Q388Q

c.1164G>A

2 papers

NM_012222.3

p.R414C

c.1240C>T

NM_001048174.2

p.R389C

c.1165C>T

1 paper

NM_012222.3

p.L412F

c.1234C>T

1 paper

NM_001048174.2

p.L387V

c.1159C>G

2 papers

NM_001128425.2

p.R417S

c.1249C>A

NM_001048174.2

p.R389S

c.1165C>A

2 papers

NM_001128425.2

p.R417H

c.1250G>A

NM_001048174.2

p.R389H

c.1166G>A

3 papers

NM_001128425.2

p.Q414R

c.1241A>G

NM_001048174.2

p.Q386R

c.1157A>G