Varaico: Literature-Extracted Genetic Variants

PCDHA3

102 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 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–341UCSCCadherin domain

Cadherinaa 355–446UCSCCadherin domain

Cadherinaa 460–556UCSCCadherin domain

Cadherinaa 579–670UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin alpha 3

HGNC Alias Symbol

PCDH-ALPHA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_018906.3

p.V418M

c.1252G>A

Surrounding Variants

1 paper

NM_018906.3

p.R415H

c.1244G>A

1 paper

NM_018906.3

p.R415S

c.1243C>A

1 paper

NM_018906.3

p.Y421*

c.1263T>A

1 paper

NM_018906.3

p.Y421*

c.1263T>G

1 paper

NM_018906.3

p.E422Q

c.1264G>C

1 paper

NM_018906.3

p.P412P

c.1236T>C

1 paper

NM_018906.3

p.S411I

c.1232G>T

1 paper

NM_018906.3

p.G431D

c.1292G>A

2 papers

NM_018906.3

p.S440I

c.1319G>T

1 paper

NM_018906.3

p.P394S

c.1180C>T

1 paper

NM_018906.3

p.V393A

c.1178T>C

1 paper

NM_018906.3

p.H392H

c.1176C>T