Varaico: Literature-Extracted Genetic Variants

PCDHB16

76 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 139–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 16

HGNC Alias Symbols

PCDHB8a; PCDH3X; KIAA1621; PCDH-BETA16

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020957.4

p.V460I

c.1378G>A

Surrounding Variants

1 paper

NM_020957.4

p.E462G

c.1385A>G

1 paper

NM_020957.4

p.Q453L

c.1358A>T

1 paper

NM_020957.4

p.A448T

c.1342G>A

1 paper

NM_020957.4

p.V473I

c.1417G>A

1 paper

NM_020957.4

p.S480P

c.1438T>C

3 papers

NM_020957.4

p.T482I

c.1445C>T

1 paper

NM_020957.4

p.T433M

c.1298C>T

1 paper

NM_020957.4

p.T487P

c.1459A>C

1 paper

NM_020957.4

p.T428fs

c.1282_1283fs

1 paper

NM_020957.4

p.H497Q

c.1491C>A

1 paper

NM_020957.4

p.H497Q

c.1491C>G

2 papers

NM_020957.4

p.L498L

c.1494G>T