Varaico: Literature-Extracted Genetic Variants

PCDH20

71 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a c...

Pfam Domains

Cadherinaa 214–311UCSCCadherin domain

Cadherinaa 325–417UCSCCadherin domain

Cadherinaa 540–630UCSCCadherin domain

Cadherinaa 644–733UCSCCadherin domain

Cadherinaa 751–844UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 20

HGNC Alias Symbols

PCDH13; FLJ22218

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022843.4

p.V523M

c.1567G>A

Surrounding Variants

1 paper

NM_022843.4

p.V520D

c.1559T>A

1 paper

NM_022843.4

p.E513D

c.1539G>T

1 paper

NM_022843.4

p.E513D

c.1539G>C

1 paper

NM_022843.4

p.A532D

c.1595C>A

1 paper

NM_022843.4

p.L557P

c.1670T>C

1 paper

NM_022843.4

p.K481I

c.1442A>T

1 paper

NM_022843.4

p.S478L

c.1433C>T

1 paper

NM_022843.4

p.G568S

c.1702G>A

1 paper

NM_022843.4

p.G568D

c.1703G>A

1 paper

NM_022843.4

p.Q569K

c.1705C>A

1 paper

NM_022843.4

p.P459Q

c.1376C>A

1 paper

NM_022843.4

p.R599L

c.1796G>T