Varaico: Literature-Extracted Genetic Variants

PCDHB8

111 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 31–113UCSCCadherin-like

Cadherinaa 140–234UCSCCadherin domain

Cadherinaa 248–339UCSCCadherin domain

Cadherinaa 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 576–664UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 8

HGNC Alias Symbols

PCDH-BETA8; PCDH3I

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019120.5

p.Y671*

c.2013C>G

Surrounding Variants

1 paper

NM_019120.5

p.Y671*

c.2013C>A

1 paper

NM_019120.5

p.E676delFs

c.2028delG

1 paper

NM_019120.5

p.A677G

c.2030C>G

1 paper

NM_019120.5

p.L663M

c.1987C>A

2 papers

NM_019120.5

p.V661L

c.1981G>C

2 papers

NM_019120.5

p.V661L

c.1981G>T

1 paper

NM_019120.5

p.T658M

c.1973C>T

1 paper

NM_019120.5

p.C653R

c.1957T>C

3 papers

NM_019120.5

p.V698_S699insCC

c.2092_2096ins6

1 paper

NM_019120.5

p.L701_F702del2

c.2101_2105del6

2 papers

NM_019120.5

p.Q639H

c.1917G>C

2 papers

NM_019120.5

p.Q639H

c.1917G>T