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.P4P

c.12A>C

Surrounding Variants

1 paper

NM_001048174.2

p.P4P

c.12A>T

1 paper

NM_001048174.2

p.P4P

c.12A>G

24 papers

NM_001048174.2

p.R5*

c.13C>T

NM_001128425.2

p.R19*

c.55C>T

22 papers

NM_001048174.2

p.P4L

c.11C>T

NM_001128425.2

p.P18L

c.53C>T

1 paper

NM_001048174.2

p.R5G

c.13C>G

1 paper

NM_001048174.2

p.P4R

c.11C>G

2 papers

NM_001048174.2

p.P4insFs

c.12dupA

1 paper

NM_001048174.2

p.M1_P4insFs

c.2_12dup11

1 paper

NM_001048174.2

p.R5R

c.13C>A

1 paper

NM_001048174.2

p.P4Q

c.11C>A

1 paper

NM_001048174.2

p.K3_P4delFs

c.9_10delGC

1 paper

NM_001048174.2

p.R2_P4del3

c.4_11del9