Varaico: Literature-Extracted Genetic Variants

PCDHGA4

47 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 61–143UCSCCadherin-like

Cadherinaa 169–264UCSCCadherin domain

Cadherinaa 278–369UCSCCadherin domain

Cadherinaa 383–474UCSCCadherin domain

Cadherinaa 488–584UCSCCadherin domain

Cadherinaa 609–696UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 4

HGNC Alias Symbol

PCDH-GAMMA-A4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018917.4

p.G216V

c.647G>T

Surrounding Variants

1 paper

NM_018917.4

p.R233C

c.697C>T

1 paper

NM_018917.4

p.V242I

c.724G>A

1 paper

NM_018917.4

p.A181T

c.541G>A

1 paper

NM_018917.4

p.E177K

c.529G>A

1 paper

NM_018917.4

p.D268N

c.802G>A

1 paper

NM_018917.4

p.K146*

c.436A>T

1 paper

NM_018917.4

p.C133R

c.397T>C

1 paper

NM_018917.4

p.D122H

c.364G>C

1 paper

NM_018917.4

p.P110S

c.328C>T

1 paper

NM_018917.4

p.S327Y

c.980C>A

1 paper

NM_018917.4

p.T103M

c.308C>T

1 paper

NM_018917.4

p.T333A

c.997A>G