Varaico: Literature-Extracted Genetic Variants

PCDHGA11

55 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 31–113UCSCCadherin-like

Cadherinaa 248–339UCSCCadherin domain

Cadherinaa 355–444UCSCCadherin domain

Cadherinaa 458–554UCSCCadherin domain

Cadherinaa 579–666UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 11

HGNC Alias Symbol

PCDH-GAMMA-A11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018914.3

p.V744A

c.2231T>C

Surrounding Variants

1 paper

NM_018914.3

p.T738M

c.2213C>T

1 paper

NM_018914.3

p.L706fs

c.2116_2117fs

1 paper

NM_018914.3

p.E787E

c.2361G>A

1 paper

NM_018914.3

p.P791L

c.2372C>T

1 paper

NM_018914.3

p.Y693*

c.2079C>A

1 paper

NM_018914.3

p.Y693*

c.2079C>G

1 paper

NM_018914.3

p.S688del1

c.2062_2063delTCA

1 paper

NM_018914.3

p.T687_S688del1

c.2060_2062delCCT

1 paper

NM_018914.3

p.E671K

c.2011G>A

1 paper

NM_018914.3

p.D667E

c.2001C>A

1 paper

NM_018914.3

p.D667E

c.2001C>G

1 paper

NM_018914.3

p.A664T

c.1990G>A