Varaico: Literature-Extracted Genetic Variants

PCDHGA9

37 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 354–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 9

HGNC Alias Symbol

PCDH-GAMMA-A9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_018921.3

p.R92delFs

c.275delG

Surrounding Variants

1 paper

NM_018921.3

p.R92fs

c.274_275fs

1 paper

NM_018921.3

p.E93fs

c.277_278fs

1 paper

NM_018921.3

p.P100P

c.300G>A

1 paper

NM_018921.3

p.G82R

c.244G>C

1 paper

NM_018921.3

p.L103P

c.308T>C

1 paper

NM_018921.3

p.R80L

c.239G>T

1 paper

NM_018921.3

p.D112H

c.334G>C

1 paper

NM_018921.3

p.R65C

c.193C>T

1 paper

NM_018921.3

p.E61Q

c.181G>C

1 paper

NM_018921.3

p.A60A

c.180G>A

1 paper

NM_018921.3

p.N127K

c.381C>A

1 paper

NM_018921.3

p.N127K

c.381C>G