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.A456T

c.1366G>A

Surrounding Variants

1 paper

NM_001048174.2

p.A456S

c.1366G>T

1 paper

NM_001048174.2

p.A456P

c.1366G>C

2 papers

NM_001048174.2

p.A456V

c.1367C>T

1 paper

NM_001048174.2

p.A456G

c.1367C>G

1 paper

NM_001048174.2

p.A456delFs

c.1366delC

1 paper

NM_001048174.2

p.T455S

c.1364C>G

1 paper

NM_001048174.2

p.A456A

c.1368A>C

1 paper

NM_001048174.2

p.A457T

c.1369G>A

2 papers

NM_001048174.2

p.T455S

c.1363A>T

2 papers

NM_001048174.2

p.T455A

c.1363A>G

1 paper

NM_001048174.2

p.T455P

c.1363A>C

1 paper

NM_001048174.2

p.H454P

c.1361A>C