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.P739H

c.2216C>A

Surrounding Variants

1 paper

NM_022843.4

p.N738K

c.2214C>G

1 paper

NM_022843.4

p.N738K

c.2214C>A

1 paper

NM_022843.4

p.P740L

c.2219C>T

1 paper

NM_022843.4

p.I735M

c.2205C>G

1 paper

NM_022843.4

p.D734H

c.2200G>C

1 paper

NM_022843.4

p.I728fs

c.2182_2183fs

1 paper

NM_022843.4

p.P720L

c.2159C>T

1 paper

NM_022843.4

p.A769T

c.2305G>A

2 papers

NM_022843.4

p.S707Y

c.2120C>A

1 paper

NM_022843.4

p.V779A

c.2336T>C

1 paper

NM_022843.4

p.V698V

c.2094C>G

1 paper

NM_022843.4

p.R791R

c.2373G>A