Varaico: Literature-Extracted Genetic Variants

PCDHAC2

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 43–127UCSCCadherin-like

Cadherinaa 153–248UCSCCadherin domain

Cadherinaa 262–356UCSCCadherin domain

Cadherinaa 372–460UCSCCadherin domain

Cadherinaa 474–570UCSCCadherin domain

Cadherinaa 593–681UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin alpha subfamily C, 2

HGNC Alias Symbol

PCDH-ALPHA-C2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018899.6

p.D311E

c.933T>G

Surrounding Variants

1 paper

NM_018899.6

p.D311E

c.933T>A

1 paper

NM_018899.6

p.S309I

c.926G>T

1 paper

NM_018899.6

p.I320N

c.959T>A

1 paper

NM_018899.6

p.I320T

c.959T>C

1 paper

NM_018899.6

p.S301W

c.902C>G

1 paper

NM_018899.6

p.G322R

c.964G>A

1 paper

NM_018899.6

p.G322R

c.964G>C

1 paper

NM_018899.6

p.S329Y

c.986C>A

1 paper

NM_018899.6

p.N289S

c.866A>G

1 paper

NM_018899.6

p.P284P

c.852G>A

1 paper

NM_018899.6

p.R267L

c.800G>T

2 papers

NM_018899.6

p.V264I

c.790G>A