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.C102F

c.305G>T

Surrounding Variants

1 paper

NM_018915.4

p.F106C

c.317T>G

1 paper

NM_018915.4

p.L95V

c.283C>G

1 paper

NM_018915.4

p.L95F

c.283C>T

1 paper

NM_018915.4

p.E93D

c.279G>C

1 paper

NM_018915.4

p.E93D

c.279G>T

1 paper

NM_018915.4

p.A76T

c.226G>A

1 paper

NM_018915.4

p.E139*

c.415G>T

1 paper

NM_018915.4

p.L140fs

c.418_419fs

1 paper

NM_018915.4

p.L140insFs

c.420dupA

1 paper

NM_018915.4

p.T147M

c.440C>T

1 paper

NM_018915.4

p.P153L

c.458C>T

1 paper

NM_018915.4

p.A49T

c.145G>A