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.D760V

c.2279A>T

Surrounding Variants

1 paper

NM_032968.5

p.V772M

c.2314G>A

1 paper

NM_032968.5

p.E737V

c.2210A>T

1 paper

NM_032968.5

p.T790S

c.2368A>T

1 paper

NM_032968.5

p.T790S

c.2369C>G

1 paper

NM_032968.5

p.S808N

c.2423G>A

1 paper

NM_032968.5

p.L814M

c.2440C>A

1 paper

NM_032968.5

p.N703T

c.2108A>C

1 paper

NM_032968.5

p.V701A

c.2102T>C

1 paper

NM_032968.5

p.Q697*

c.2089C>T

1 paper

NM_032968.5

p.V833A

c.2498T>C

1 paper

NM_032968.5

p.Y682Y

c.2046T>C

1 paper

NM_032968.5

p.F673delFs

c.2019delC