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

1 paper

NM_018914.3

p.S520delFs

c.1558delT

Surrounding Variants

1 paper

NM_018914.3

p.S520fs

c.1558_1559fs

1 paper

NM_018914.3

p.D522N

c.1564G>A

1 paper

NM_018914.3

p.A517T

c.1549G>A

1 paper

NM_018914.3

p.G499R

c.1495G>A

1 paper

NM_018914.3

p.G499R

c.1495G>C

1 paper

NM_018914.3

p.V547A

c.1640T>C

1 paper

NM_018914.3

p.L549L

c.1647G>C

1 paper

NM_018914.3

p.D479N

c.1435G>A

2 papers

NM_018914.3

p.G469C

c.1405G>T

1 paper

NM_018914.3

p.G572V

c.1715G>T

1 paper

NM_018914.3

p.A579V

c.1736C>T

1 paper

NM_018914.3

p.V452G

c.1355T>G