Varaico: Literature-Extracted Genetic Variants

PCDHGA2

100 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, 2

HGNC Alias Symbol

PCDH-GAMMA-A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018915.4

p.Q555H

c.1665G>T

Surrounding Variants

1 paper

NM_018915.4

p.Q555H

c.1665G>C

1 paper

NM_018915.4

p.I562I

c.1686C>A

1 paper

NM_018915.4

p.T569S

c.1705A>T

1 paper

NM_018915.4

p.P540S

c.1618C>T

1 paper

NM_018915.4

p.D536N

c.1606G>A

1 paper

NM_018915.4

p.D536Y

c.1606G>T

1 paper

NM_018915.4

p.V530M

c.1588G>A

1 paper

NM_018915.4

p.P584H

c.1751C>A

1 paper

NM_018915.4

p.S519C

c.1556C>G

1 paper

NM_018915.4

p.A516T

c.1546G>A

1 paper

NM_018915.4

p.H607Y

c.1819C>T

1 paper

NM_018915.4

p.S612R

c.1834A>C