Varaico: Literature-Extracted Genetic Variants

LDB3

355 papers

RefSeq Summary

This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with eac...

Pfam Domains

PDZaa 3–81UCSCPDZ domain

DUF4749aa 148–250UCSCDomain of unknown function (DUF4749)

DUF4749aa 189–297UCSCDomain of unknown function (DUF4749)

LIMaa 488–543UCSCLIM domain

LIMaa 547–602UCSCLIM domain

LIMaa 606–662UCSCLIM domain

Gene Aliases

HGNC Name

LIM domain binding 3

HGNC Previous Symbol

CMD1C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007078.3

p.V49L

c.145G>T

Surrounding Variants

1 paper

NM_007078.3

p.V49L

c.145G>C

1 paper

NM_007078.3

p.V49V

c.147G>A

3 papers

NM_007078.3

p.D47N

c.139G>A

1 paper

NM_007078.3

p.Q45_G46Fs

c.134_136delinsCCFs

1 paper

NM_007078.3

p.D53E

c.159C>A

1 paper

NM_007078.3

p.D53E

c.159C>G

6 papers

NM_007078.3

p.G54S

c.160G>A

1 paper

NM_007078.3

p.G54D

c.161G>A

16 papers

NM_007078.3

p.V55I

c.163G>A

3 papers

NM_007078.3

p.T57T

c.171A>T

1 paper

NM_007078.3

p.A38A

c.114A>T

1 paper

NM_007078.3

p.K37E

c.109A>G