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

2 papers

NM_032968.5

p.P1011_P1012Splc

c.3034-1G>A

Surrounding Variants

1 paper

NM_032968.5

p.R1018*

c.3052C>T

1 paper

NM_032968.5

p.R1018Q

c.3053G>A

1 paper

NM_032968.5

p.C1020C

c.3060C>T

1 paper

NM_032968.5

p.I1031V

c.3091A>G

1 paper

NM_032968.5

p.Q1038_R1039Splc

c.3114+4T>G