Varaico: Literature-Extracted Genetic Variants

PCDHGA6

67 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 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 6

HGNC Alias Symbol

PCDH-GAMMA-A6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018919.3

p.L297F

c.891G>T

Surrounding Variants

1 paper

NM_018919.3

p.L297F

c.891G>C

1 paper

NM_018919.3

p.D308G

c.923A>G

1 paper

NM_018919.3

p.G275R

c.823G>A

1 paper

NM_018919.3

p.G275R

c.823G>C

1 paper

NM_018919.3

p.I335T

c.1004T>C

1 paper

NM_018919.3

p.D339E

c.1017T>A

1 paper

NM_018919.3

p.D339E

c.1017T>G

1 paper

NM_018919.3

p.D373N

c.1117G>A

1 paper

NM_018919.3

p.T213S

c.637A>T

1 paper

NM_018919.3

p.L210V

c.628C>G

1 paper

NM_018919.3

p.P387Q

c.1160C>A

1 paper

NM_018919.3

p.D201V

c.602A>T