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

2 papers

NM_001048174.2

p.W447R

c.1339T>C

Surrounding Variants

2 papers

NM_001048174.2

p.W447R

c.1339T>A

1 paper

NM_001048174.2

p.R446R

c.1338C>T

1 paper

NM_001048174.2

p.R446R

c.1338C>G

1 paper

NM_001048174.2

p.R446P

c.1337G>C

3 papers

NM_001048174.2

p.R446H

c.1337G>A

NM_001128425.2

p.R474H

c.1421G>A

1 paper

NM_001048174.2

p.W447*

c.1341G>A

1 paper

NM_001048174.2

p.L448fs

c.1342_1343fs

4 papers

NM_001128425.2

p.R474C

c.1420C>T

NM_001048174.2

p.R446C

c.1336C>T

1 paper

NM_001048174.2

p.R446G

c.1336C>G

2 papers

NM_001048172.2

p.L449L

c.1347G>C

NM_001048174.2

p.L448L

c.1344G>C

1 paper

NM_001048174.2

p.L448L

c.1344G>A

1 paper

NM_001048174.2

p.L448delFs

c.1343delA