Varaico: Literature-Extracted Genetic Variants

PCDHGA1

91 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 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 579–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 1

HGNC Alias Symbol

PCDH-GAMMA-A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018912.3

p.S677R

c.2029A>C

Surrounding Variants

1 paper

NM_018912.3

p.S677R

c.2031C>A

1 paper

NM_018912.3

p.S677R

c.2031C>G

1 paper

NM_018912.3

p.A673T

c.2017G>A

1 paper

NM_018912.3

p.S687S

c.2061G>A

1 paper

NM_018912.3

p.T690_S701del12

c.2068_2102del36

1 paper

NM_018912.3

p.A663A

c.1989C>A

1 paper

NM_018912.3

p.T690I

c.2069C>T

1 paper

NM_018912.3

p.L693R

c.2078T>G

1 paper

NM_018912.3

p.T659M

c.1976C>T

2 papers

NM_018912.3

p.V658I

c.1972G>A

1 paper

NM_018912.3

p.A696T

c.2086G>A

1 paper

NM_018912.3

p.A696V

c.2087C>T