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.S152L

c.455C>T

Surrounding Variants

1 paper

NM_032968.5

p.I154L

c.460A>C

1 paper

NM_032968.5

p.T159N

c.476C>A

1 paper

NM_032968.5

p.V164insFs

c.490_491insA

1 paper

NM_032968.5

p.F139_A141ins1

c.415_423dup9

1 paper

NM_032968.5

p.P166P

c.498T>C

1 paper

NM_032968.5

p.G172insFs

c.514dupG

1 paper

NM_032968.5

p.G172V

c.515G>T

1 paper

NM_032968.5

p.E118G

c.353A>G

1 paper

NM_032968.5

p.D117E

c.351T>A

1 paper

NM_032968.5

p.C106C

c.318C>T

1 paper

NM_032968.5

p.R102K

c.305G>A

1 paper

NM_032968.5

p.C97fs

c.289_290fs