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_012222.3

p.T474M

c.1421C>T

NM_001048174.2

p.T449M

c.1346C>T

Surrounding Variants

8 papers

NM_001128425.2

p.T477T

c.1431G>C

NM_012222.3

p.T474T

c.1422G>C

NM_001048174.2

p.T449T

c.1347G>C

1 paper

NM_001128425.2

p.T477T

c.1431G>A

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

1 paper

NM_001048174.2

p.Q450H

c.1350G>T

1 paper

NM_001048174.2

p.L448fs

c.1342_1343fs

9 papers

NM_001128425.2

p.E479*

c.1435G>T

NM_001048174.2

p.E451*

c.1351G>T

2 papers

NM_001048174.2

p.E451K

c.1351G>A

NM_001128425.2

p.E479K

c.1435G>A

1 paper

NM_001048174.2

p.W447*

c.1341G>A

1 paper

NM_001048174.2

p.Q450_E451Fs

c.1350_1352delinsACFs

2 papers

NM_001048174.2

p.W447R

c.1339T>C