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

2 papers

NM_018919.3

p.T22M

c.65C>T

Surrounding Variants

1 paper

NM_018919.3

p.W24fs

c.70_71fs

1 paper

NM_018919.3

p.W24delFs

c.71delG

1 paper

NM_018919.3

p.L20M

c.58C>A

1 paper

NM_018919.3

p.A26fs

c.76_77fs

1 paper

NM_018919.3

p.A29V

c.86C>T

1 paper

NM_018919.3

p.Q13_L16del0

c.38_46del9

1 paper

NM_018919.3

p.A60V

c.179C>T

1 paper

NM_018919.3

p.R65H

c.194G>A

1 paper

NM_018919.3

p.E93K

c.277G>A

1 paper

NM_018919.3

p.R101W

c.301C>T

1 paper

NM_018919.3

p.R101Q

c.302G>A

1 paper

NM_018919.3

p.L109F

c.325C>T