Varaico: Literature-Extracted Genetic Variants

PCDHGA5

68 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 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 5

HGNC Alias Symbols

CDH-GAMMA-A5; PCDH-GAMMA-A5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018918.3

p.E783D

c.2349G>T

Surrounding Variants

1 paper

NM_018918.3

p.E783D

c.2349G>C

1 paper

NM_018918.3

p.L780F

c.2338C>T

1 paper

NM_018918.3

p.E803K

c.2407G>A

1 paper

NM_018918.3

p.S763L

c.2288C>T

1 paper

NM_018918.3

p.A737T

c.2209G>A

1 paper

NM_018918.3

p.S730fs

c.2188_2189fs

1 paper

NM_018918.3

p.G729_S730delFs

c.2187_2188delCA

1 paper

NM_018918.3

p.R723C

c.2167C>T

1 paper

NM_018918.3

p.K721N

c.2163G>C

1 paper

NM_018918.3

p.K721N

c.2163G>T

1 paper

NM_018918.3

p.V694L

c.2080G>C

1 paper

NM_018918.3

p.V694L

c.2080G>T