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.L393V

c.1177C>G

Surrounding Variants

1 paper

NM_019120.5

p.I386T

c.1157T>C

1 paper

NM_019120.5

p.T403I

c.1208C>T

1 paper

NM_019120.5

p.E407D

c.1221G>T

1 paper

NM_019120.5

p.T408K

c.1223C>A

1 paper

NM_019120.5

p.V365G

c.1094T>G

1 paper

NM_019120.5

p.T364_V365delFs

c.1092_1093delTG

1 paper

NM_019120.5

p.V424I

c.1270G>A

3 papers

NM_019120.5

p.A361V

c.1082C>T

1 paper

NM_019120.5

p.T425_D426insCCA

c.1273_1277ins9

1 paper

NM_019120.5

p.P358T

c.1072C>A

1 paper

NM_019120.5

p.L436L

c.1308C>G

2 papers

NM_019120.5

p.N437H

c.1309A>C