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.A619G

c.1856C>G

Surrounding Variants

1 paper

NM_018914.3

p.G621W

c.1861G>T

1 paper

NM_018914.3

p.T624M

c.1871C>T

1 paper

NM_018914.3

p.K611R

c.1832A>G

3 papers

NM_018914.3

p.R628H

c.1883G>A

1 paper

NM_018914.3

p.L610R

c.1829T>G

1 paper

NM_018914.3

p.A603T

c.1807G>A

1 paper

NM_018914.3

p.V645del1

c.1933_1934delGTG

1 paper

NM_018914.3

p.V644V

c.1932G>A

1 paper

NM_018914.3

p.A579V

c.1736C>T

1 paper

NM_018914.3

p.V659A

c.1976T>C

1 paper

NM_018914.3

p.L661V

c.1981C>G

1 paper

NM_018914.3

p.T662S

c.1984A>T