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

1–12 of 175 variants

4 papers

NM_032968.5

p.G1047E

c.3140G>A

2 papers

NM_032968.5

p.F10F

c.30C>T

2 papers

NM_032968.5

p.V17M

c.49G>A

2 papers

NM_032968.5

p.G224S

c.670G>A

2 papers

NM_032968.5

p.F470F

c.1410C>T

2 papers

NM_032968.5

p.R518H

c.1553G>A

2 papers

NM_032968.5

p.A657V

c.1970C>T

2 papers

NM_032968.5

p.V1007I

c.3019G>A

2 papers

NM_032968.5

p.T1009S

c.3025A>T

2 papers

NM_032968.5

p.T1009S

c.3026C>G

2 papers

NM_032968.5

p.P1011_P1012Splc

c.3034-1G>A

1 paper

NM_032968.5

p.M1V

c.1A>G