Varaico: Literature-Extracted Genetic Variants

PCDHGC4

52 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 247–341UCSCCadherin domain

Cadherinaa 356–446UCSCCadherin domain

Cadherinaa 460–556UCSCCadherin domain

Cadherinaa 581–666UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily C, 4

HGNC Alias Symbol

PCDH-GAMMA-C4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018928.3

p.V606G

c.1817T>G

Surrounding Variants

1 paper

NM_018928.3

p.S600L

c.1799C>T

1 paper

NM_018928.3

p.V621F

c.1861G>T

1 paper

NM_018928.3

p.S622F

c.1865C>T

1 paper

NM_018928.3

p.S583S

c.1749A>G

1 paper

NM_018928.3

p.R629W

c.1885C>T

1 paper

NM_018928.3

p.L575fs

c.1723_1724fs

1 paper

NM_018928.3

p.L575insFs

c.1724dupT

1 paper

NM_018928.3

p.K642_V647delFs

c.1926_1941del16

1 paper

NM_018928.3

p.L566I

c.1696C>A

1 paper

NM_018928.3

p.R552C

c.1654C>T

1 paper

NM_018928.3

p.L545F

c.1633C>T

1 paper

NM_018928.3

p.T669I

c.2006C>T