Varaico: Literature-Extracted Genetic Variants

CDH19

85 papers

RefSeq Summary

This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellula...

Pfam Domains

Cadherinaa 48–139UCSCCadherin domain

Cadherinaa 153–247UCSCCadherin domain

Cadherinaa 261–362UCSCCadherin domain

Cadherinaa 375–461UCSCCadherin domain

Cadherinaa 474–571UCSCCadherin domain

CADH_Y-type_LIRaa 706–765UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 19

HGNC Previous Name

cadherin 19, type 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021153.4

p.Y100*

c.300T>A

Surrounding Variants

1 paper

NM_021153.4

p.E108K

c.322G>A

1 paper

NM_021153.4

p.R110L

c.329G>T

1 paper

NM_021153.4

p.S139S

c.417G>A

1 paper

NM_021153.4

p.V157L

c.469G>T

1 paper

NM_021153.4

p.V157L

c.469G>C

1 paper

NM_021153.4

p.V157I

c.469G>A

1 paper

NM_021153.4

p.E159G

c.476A>G

2 papers

NM_021153.4

p.T58M

c.173C>T

1 paper

NM_021153.4

p.F50I

c.148T>A

1 paper

NM_021153.4

p.R43H

c.128G>A

1 paper

NM_021153.4

p.L39F

c.117G>T

1 paper

NM_021153.4

p.L39F

c.117G>C