Varaico: Literature-Extracted Genetic Variants

PCDH11X

111 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane doma...

Pfam Domains

Cadherin_2aa 25–115UCSCCadherin-like

Cadherinaa 144–240UCSCCadherin domain

Cadherinaa 254–346UCSCCadherin domain

Cadherinaa 366–457UCSCCadherin domain

Cadherinaa 471–561UCSCCadherin domain

Cadherinaa 575–664UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 11 X-linked

HGNC Previous Symbol

PCDH11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032968.5

p.N281N

c.843T>C

Surrounding Variants

1 paper

NM_032968.5

p.D277delFs

c.829delG

1 paper

NM_032968.5

p.A296D

c.887C>A

1 paper

NM_032968.5

p.R297M

c.890G>T

1 paper

NM_032968.5

p.R298I

c.893G>T

1 paper

NM_032968.5

p.A233_I234delins

c.697_700delinsTAAC

1 paper

NM_032968.5

p.G225_V239del15

c.673_716del45

2 papers

NM_032968.5

p.G224S

c.670G>A

1 paper

NM_032968.5

p.V216M

c.646G>A

1 paper

NM_032968.5

p.Y215Y

c.645C>T

1 paper

NM_032968.5

p.T214A

c.640A>G

1 paper

NM_032968.5

p.K205N

c.615G>C

1 paper

NM_032968.5

p.K205N

c.615G>T