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.P34H

c.101C>A

Surrounding Variants

1 paper

NM_022843.4

p.S37C

c.109A>T

1 paper

NM_022843.4

p.S39R

c.115A>C

1 paper

NM_022843.4

p.S39R

c.117C>G

1 paper

NM_022843.4

p.S39R

c.117C>A

1 paper

NM_022843.4

p.L26P

c.77T>C

2 papers

NM_022843.4

p.M1T

c.2T>C

1 paper

NM_022843.4

p.V80V

c.240G>C

1 paper

NM_022843.4

p.G83D

c.248G>A

1 paper

NM_022843.4

p.G83G

c.249C>T

1 paper

NM_022843.4

p.S84T

c.251G>C

1 paper

NM_022843.4

p.S103L

c.308C>T

1 paper

NM_022843.4

p.F119delFs

c.355_356delAA