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.W146_A147del2

c.436_440del6

Surrounding Variants

1 paper

NM_001048174.2

p.G148R

c.442G>C

1 paper

NM_001048174.2

p.W146_A147delins

c.438_441delinsA

1 paper

NM_001048174.2

p.G148D

c.443G>A

1 paper

NM_001048174.2

p.A147V

c.440C>T

1 paper

NM_001048174.2

p.A147D

c.440C>A

2 papers

NM_001048174.2

p.A147S

c.439G>T

1 paper

NM_001048174.2

p.A147P

c.439G>C

1 paper

NM_001048174.2

p.L149L

c.445C>T

1 paper

NM_001048174.2

p.L149insFs

c.445_446insT

1 paper

NM_001048174.2

p.L149P

c.446T>C

1 paper

NM_001048174.2

p.L149Q

c.446T>A

2 papers

NM_001048174.2

p.W146C

c.438G>T