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.V1005L

c.3013G>T

Surrounding Variants

1 paper

NM_032968.5

p.V1005L

c.3013G>C

1 paper

NM_032968.5

p.V1005V

c.3015G>T

1 paper

NM_032968.5

p.S1006S

c.3018C>G

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

1 paper

NM_032968.5

p.T1009T

c.3027C>G

1 paper

NM_032968.5

p.R1010I

c.3029G>T

1 paper

NM_032968.5

p.V998V

c.2994G>T

1 paper

NM_032968.5

p.P1011P

c.3033G>A

1 paper

NM_032968.5

p.S982S

c.2946C>A

1 paper

NM_032968.5

p.S982Y

c.2945C>A