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.S677T

c.2029T>A

Surrounding Variants

1 paper

NM_022843.4

p.A675T

c.2023G>A

1 paper

NM_022843.4

p.G672A

c.2015G>C

1 paper

NM_022843.4

p.A668T

c.2002G>A

1 paper

NM_022843.4

p.I661T

c.1982T>C

1 paper

NM_022843.4

p.E657K

c.1969G>A

1 paper

NM_022843.4

p.V698V

c.2094C>G

1 paper

NM_022843.4

p.V648G

c.1943T>G

1 paper

NM_022843.4

p.F647delFs

c.1941delA

1 paper

NM_022843.4

p.F647fs

c.1939_1940fs

2 papers

NM_022843.4

p.S707Y

c.2120C>A

1 paper

NM_022843.4

p.P720L

c.2159C>T

1 paper

NM_022843.4

p.I728fs

c.2182_2183fs