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.I540F

c.1618A>T

Surrounding Variants

1 paper

NM_032968.5

p.A542T

c.1624G>A

1 paper

NM_032968.5

p.Y536*

c.1608T>A

1 paper

NM_032968.5

p.P549L

c.1646C>T

1 paper

NM_032968.5

p.K527K

c.1581A>G

1 paper

NM_032968.5

p.T519T

c.1557A>G

2 papers

NM_032968.5

p.R518H

c.1553G>A

1 paper

NM_032968.5

p.C517R

c.1549T>C

1 paper

NM_032968.5

p.D516D

c.1548T>C

1 paper

NM_032968.5

p.F513Y

c.1538T>A

1 paper

NM_032968.5

p.V579V

c.1737C>T

1 paper

NM_032968.5

p.A493T

c.1477G>A

1 paper

NM_032968.5

p.S489T

c.1466G>C