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.V703I

c.2107G>A

Surrounding Variants

1 paper

NM_018919.3

p.A699V

c.2096C>T

1 paper

NM_018919.3

p.V695V

c.2085G>A

1 paper

NM_018919.3

p.R718L

c.2153G>T

2 papers

NM_018919.3

p.K683I

c.2048A>T

1 paper

NM_018919.3

p.L675L

c.2025G>A

1 paper

NM_018919.3

p.G737A

c.2210G>C

1 paper

NM_018919.3

p.R747W

c.2239C>T

1 paper

NM_018919.3

p.Q751K

c.2251C>A

1 paper

NM_018919.3

p.V757I

c.2269G>A

2 papers

NM_018919.3

p.S758fs

c.2272_2273fs

2 papers

NM_018919.3

p.S758delFs

c.2274delA

1 paper

NM_018919.3

p.T760S

c.2278A>T