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.T103M

c.308C>T

Surrounding Variants

1 paper

NM_018917.4

p.P110S

c.328C>T

1 paper

NM_018917.4

p.R93H

c.278G>A

1 paper

NM_018917.4

p.D122H

c.364G>C

1 paper

NM_018917.4

p.A80T

c.238G>A

1 paper

NM_018917.4

p.C133R

c.397T>C

1 paper

NM_018917.4

p.Q61K

c.181C>A

1 paper

NM_018917.4

p.K146*

c.436A>T

1 paper

NM_018917.4

p.R43W

c.127C>T

1 paper

NM_018917.4

p.E177K

c.529G>A

1 paper

NM_018917.4

p.R27R

c.81C>G

1 paper

NM_018917.4

p.A181T

c.541G>A

1 paper

NM_018917.4

p.G216V

c.647G>T