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.V38F

c.112G>T

Surrounding Variants

1 paper

NM_032968.5

p.N37D

c.109A>G

1 paper

NM_032968.5

p.K45N

c.135A>C

1 paper

NM_032968.5

p.K45N

c.135A>T

1 paper

NM_032968.5

p.N27K

c.81C>G

1 paper

NM_032968.5

p.P53S

c.157C>T

1 paper

NM_032968.5

p.S56S

c.168C>T

2 papers

NM_032968.5

p.V17M

c.49G>A

2 papers

NM_032968.5

p.F10F

c.30C>T

1 paper

NM_032968.5

p.V66_D80del0

c.198_239del42

1 paper

NM_032968.5

p.G70R

c.208G>A

1 paper

NM_032968.5

p.S5S

c.15C>T

1 paper

NM_032968.5

p.G70_D80del0

c.210_239del30