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.Q327delFs

c.981delC

Surrounding Variants

2 papers

NM_021153.4

p.F324V

c.970T>G

1 paper

NM_021153.4

p.D323Y

c.967G>T

1 paper

NM_021153.4

p.S353F

c.1058C>T

1 paper

NM_021153.4

p.T354T

c.1062C>T

1 paper

NM_021153.4

p.Y374H

c.1120T>C

1 paper

NM_021153.4

p.E378A

c.1133A>C

1 paper

NM_021153.4

p.Q385Q

c.1155G>A

3 papers

NM_021153.4

p.V391M

c.1171G>A

1 paper

NM_021153.4

p.V392L

c.1174G>C

1 paper

NM_021153.4

p.S402Y

c.1205C>A

1 paper

NM_021153.4

p.R405Splc

c.1214+8T>C

1 paper

NM_021153.4

p.S300S

c.900G>A