Varaico: Literature-Extracted Genetic Variants

PCDH15

641 papers

RefSeq Summary

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of norm...

Pfam Domains

ECDaa 31–140UCSCExtracellular Cadherin domain

Cadherinaa 152–256UCSCCadherin domain

Cadherinaa 514–606UCSCCadherin domain

Cadherinaa 621–708UCSCCadherin domain

Cadherinaa 723–810UCSCCadherin domain

Cadherinaa 824–917UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin related 15

HGNC Previous Symbols

USH1F; DFNB23

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1050 variants

73 papers

NM_001384140.1

p.R245*

c.733C>T

24 papers

NM_001384140.1

p.R3*

c.7C>T

18 papers

NM_001384140.1

p.D435A

c.1304A>C

14 papers

NM_001384140.1

p.R134G

c.400C>G

10 papers

NM_001384140.1

p.M1insFs

c.2dupT

10 papers

NM_001384140.1

p.R1106*

c.3316C>T

9 papers

NM_001384140.1

p.V528D

c.1583T>A

9 papers

NM_001384140.1

p.R643*

c.1927C>T

9 papers

NM_001384140.1

p.R962C

c.2884C>T

9 papers

NM_001384140.1

p.G1151R

c.3451G>C

9 papers

NM_001384140.1

p.G1151R

c.3451G>A

8 papers

NM_001384140.1

p.S19A

c.55T>G