Varaico: Literature-Extracted Genetic Variants

PCDHB7

94 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 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 7

HGNC Alias Symbol

PCDH-BETA7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018940.4

p.L140F

c.420G>T

Surrounding Variants

1 paper

NM_018940.4

p.L140F

c.420G>C

1 paper

NM_018940.4

p.A151delFs

c.451delG

1 paper

NM_018940.4

p.A151fs

c.451_452fs

2 papers

NM_018940.4

p.E120K

c.358G>A

1 paper

NM_018940.4

p.R99*

c.295A>T

2 papers

NM_018940.4

p.D184E

c.552T>A

1 paper

NM_018940.4

p.D184D

c.552T>C

2 papers

NM_018940.4

p.D184E

c.552T>G

1 paper

NM_018940.4

p.E187K

c.559G>A

1 paper

NM_018940.4

p.Q198*

c.592C>T

1 paper

NM_018940.4

p.D201Y

c.601G>T

1 paper

NM_018940.4

p.T64N

c.191C>A