Varaico: Literature-Extracted Genetic Variants

PCDHGB7

42 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 32–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 577–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 7

HGNC Alias Symbols

ME6; PCDH-GAMMA-B7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018927.4

p.S385T

c.1154G>C

Surrounding Variants

3 papers

NM_018927.4

p.V405L

c.1213G>C

3 papers

NM_018927.4

p.V405L

c.1213G>T

1 paper

NM_018927.4

p.V420I

c.1258G>A

1 paper

NM_018927.4

p.T350M

c.1049C>T

1 paper

NM_018927.4

p.T425A

c.1273A>G

1 paper

NM_018927.4

p.D426N

c.1276G>A

1 paper

NM_018927.4

p.L432fs

c.1294_1295fs

1 paper

NM_018927.4

p.R330P

c.989G>C

1 paper

NM_018927.4

p.I317M

c.951A>G

1 paper

NM_018927.4

p.G468D

c.1403G>A

1 paper

NM_018927.4

p.G299V

c.896G>T

1 paper

NM_018927.4

p.D295_T297del3

c.883_890del9