Varaico: Literature-Extracted Genetic Variants

PCDHB13

84 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 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 13

HGNC Alias Symbol

PCDH-BETA13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018933.4

p.L585L

c.1755G>T

Surrounding Variants

1 paper

NM_018933.4

p.L585P

c.1754T>C

1 paper

NM_018933.4

p.V576L

c.1726G>C

1 paper

NM_018933.4

p.V576L

c.1726G>T

1 paper

NM_018933.4

p.A570T

c.1708G>A

1 paper

NM_018933.4

p.G613R

c.1837G>C

1 paper

NM_018933.4

p.D556N

c.1666G>A

3 papers

NM_018933.4

p.A554S

c.1660G>T

2 papers

NM_018933.4

p.V550L

c.1648G>C

2 papers

NM_018933.4

p.V550L

c.1648G>T

1 paper

NM_018933.4

p.R548R

c.1644C>A

1 paper

NM_018933.4

p.R548C

c.1642C>T

1 paper

NM_018933.4

p.A545T

c.1633G>A