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.I77F

c.229A>T

Surrounding Variants

1 paper

NM_032968.5

p.I75_D80del0

c.225_239del15

1 paper

NM_032968.5

p.L74_D80del0

c.222_239del18

1 paper

NM_032968.5

p.V72_D80del0

c.216_239del24

1 paper

NM_032968.5

p.D71N

c.211G>A

1 paper

NM_032968.5

p.D71_D80del0

c.213_239del27

1 paper

NM_032968.5

p.G70_D80del0

c.210_239del30

1 paper

NM_032968.5

p.G70R

c.208G>A

1 paper

NM_032968.5

p.V66_D80del0

c.198_239del42

1 paper

NM_032968.5

p.G88G

c.264C>T

1 paper

NM_032968.5

p.A89T

c.265G>A

1 paper

NM_032968.5

p.R90L

c.269G>T

1 paper

NM_032968.5

p.R90R

c.270C>A