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.V625A

c.1874T>C

Surrounding Variants

1 paper

NM_022843.4

p.V622L

c.1864G>T

1 paper

NM_022843.4

p.V622L

c.1864G>C

1 paper

NM_022843.4

p.R606I

c.1817G>T

1 paper

NM_022843.4

p.F647fs

c.1939_1940fs

1 paper

NM_022843.4

p.F647delFs

c.1941delA

1 paper

NM_022843.4

p.V648G

c.1943T>G

1 paper

NM_022843.4

p.E600Q

c.1798G>C

1 paper

NM_022843.4

p.R599L

c.1796G>T

1 paper

NM_022843.4

p.E657K

c.1969G>A

1 paper

NM_022843.4

p.I661T

c.1982T>C

1 paper

NM_022843.4

p.A668T

c.2002G>A

1 paper

NM_022843.4

p.G672A

c.2015G>C