Varaico: Literature-Extracted Genetic Variants

PCDHAC1

57 papers

RefSeq Summary

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of...

Pfam Domains

Cadherin_2aa 21–103UCSCCadherin-like

Cadherinaa 129–224UCSCCadherin domain

Cadherinaa 238–331UCSCCadherin domain

Cadherinaa 346–436UCSCCadherin domain

Cadherinaa 450–546UCSCCadherin domain

Cadherinaa 568–657UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin alpha subfamily C, 1

HGNC Alias Name

PCDH-ALPHA-C1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018898.5

p.A49T

c.145G>A

Surrounding Variants

1 paper

NM_018898.5

p.A48A

c.144C>G

1 paper

NM_018898.5

p.S52L

c.155C>T

1 paper

NM_018898.5

p.R53W

c.157C>T

1 paper

NM_018898.5

p.L43F

c.129G>C

1 paper

NM_018898.5

p.L43F

c.129G>T

1 paper

NM_018898.5

p.G67V

c.200G>T

1 paper

NM_018898.5

p.T30M

c.89C>T

2 papers

NM_018898.5

p.E28*

c.82G>T

1 paper

NM_018898.5

p.E23K

c.67G>A

1 paper

NM_018898.5

p.A17V

c.50C>T

1 paper

NM_018898.5

p.V94I

c.280G>A

1 paper

NM_018898.5

p.G3G

c.9C>A