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.I609T

c.1826T>C

Surrounding Variants

1 paper

NM_032968.5

p.L591I

c.1771C>A

1 paper

NM_032968.5

p.V579V

c.1737C>T

2 papers

NM_032968.5

p.A657V

c.1970C>T

1 paper

NM_032968.5

p.P549L

c.1646C>T

1 paper

NM_032968.5

p.N669N

c.2007C>T

1 paper

NM_032968.5

p.V672G

c.2015T>G

1 paper

NM_032968.5

p.F673delFs

c.2019delC

1 paper

NM_032968.5

p.A542T

c.1624G>A

1 paper

NM_032968.5

p.I540F

c.1618A>T

1 paper

NM_032968.5

p.Y536*

c.1608T>A

1 paper

NM_032968.5

p.Y682Y

c.2046T>C

1 paper

NM_032968.5

p.K527K

c.1581A>G