Varaico: Literature-Extracted Genetic Variants

PCDHA13

85 papers

RefSeq Summary

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–341UCSCCadherin domain

Cadherinaa 355–446UCSCCadherin domain

Cadherinaa 460–556UCSCCadherin domain

Cadherinaa 581–670UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin alpha 13

HGNC Previous Symbol

CNRS5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018904.3

p.A519S

c.1555G>T

Surrounding Variants

1 paper

NM_018904.3

p.Q521insFs

c.1561_1562insT

1 paper

NM_018904.3

p.Q521fs

c.1561_1562fs

1 paper

NM_018904.3

p.V517M

c.1549G>A

1 paper

NM_018904.3

p.A512T

c.1534G>A

1 paper

NM_018904.3

p.E526Q

c.1576G>C

1 paper

NM_018904.3

p.Q534*

c.1600C>T

1 paper

NM_018904.3

p.A503E

c.1508C>A

1 paper

NM_018904.3

p.A503V

c.1508C>T

1 paper

NM_018904.3

p.V542M

c.1624G>A

1 paper

NM_018904.3

p.P543S

c.1627C>T

1 paper

NM_018904.3

p.V549M

c.1645G>A

1 paper

NM_018904.3

p.A488A

c.1464G>T