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.D374E

c.1122T>G

Surrounding Variants

1 paper

NM_022843.4

p.D374E

c.1122T>A

1 paper

NM_022843.4

p.G378V

c.1133G>T

1 paper

NM_022843.4

p.D369N

c.1105G>A

1 paper

NM_022843.4

p.F383F

c.1149C>T

1 paper

NM_022843.4

p.F383fs

c.1147_1148fs

1 paper

NM_022843.4

p.F383delFs

c.1148delA

1 paper

NM_022843.4

p.K385E

c.1153A>G

1 paper

NM_022843.4

p.I355_T356del2

c.1063_1067del6

1 paper

NM_022843.4

p.I355_T356delFs

c.1065_1066delTA

1 paper

NM_022843.4

p.G404D

c.1211G>A

1 paper

NM_022843.4

p.S311N

c.932G>A

1 paper

NM_022843.4

p.V439A

c.1316T>C