Varaico: Literature-Extracted Genetic Variants

PCDH19

382 papers

RefSeq Summary

The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is p...

Pfam Domains

Cadherin_2aa 24–109UCSCCadherin-like

Cadherinaa 134–229UCSCCadherin domain

Cadherinaa 243–337UCSCCadherin domain

Cadherinaa 354–444UCSCCadherin domain

Cadherinaa 458–554UCSCCadherin domain

Cadherinaa 573–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 19

HGNC Previous Symbol

EFMR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001184880.2

p.P561L

c.1682C>T

Surrounding Variants

14 papers

NM_001184880.2

p.P561R

c.1682C>G

1 paper

NM_001184880.2

p.N559_P561Fs

c.1676_1682delinsGGTGCGFs

3 papers

NM_001184880.2

p.P561P

c.1683G>A

7 papers

NM_001184880.2

p.P561S

c.1681C>T

1 paper

NM_001184880.2

p.P561A

c.1681C>G

3 papers

NM_001184880.2

p.V562fs

c.1684_1685fs

1 paper

NM_001184880.2

p.N559fs

c.1675_1676fs

3 papers

NM_001184880.2

p.D558H

c.1672G>C

1 paper

NM_001184880.2

p.D558N

c.1672G>A

19 papers

NM_001184880.2

p.N557K

c.1671C>G

18 papers

NM_001184880.2

p.N557K

c.1671C>A

3 papers

NM_001184880.2

p.P561_P566delFs

c.1683_1696del14