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.K430N

c.1290A>C

Surrounding Variants

1 paper

NM_032968.5

p.K430N

c.1290A>T

1 paper

NM_032968.5

p.T429R

c.1286C>G

1 paper

NM_032968.5

p.A422V

c.1265C>T

1 paper

NM_032968.5

p.G442del1

c.1324_1326delGGC

1 paper

NM_032968.5

p.E419G

c.1256A>G

1 paper

NM_032968.5

p.G442G

c.1326C>T

1 paper

NM_032968.5

p.K443del1

c.1327_1328delAAA

1 paper

NM_032968.5

p.Q415E

c.1243C>G

1 paper

NM_032968.5

p.Q415*

c.1243C>T

1 paper

NM_032968.5

p.Q448*

c.1342C>T

1 paper

NM_032968.5

p.V411E

c.1232T>A

1 paper

NM_032968.5

p.R409W

c.1225A>T