Varaico: Literature-Extracted Genetic Variants

CDH6

120 papers

RefSeq Summary

This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesi...

Pfam Domains

Cadherinaa 59–150UCSCCadherin domain

Cadherinaa 164–259UCSCCadherin domain

Cadherinaa 273–375UCSCCadherin domain

Cadherinaa 388–479UCSCCadherin domain

Cadherinaa 492–589UCSCCadherin domain

CADH_Y-type_LIRaa 723–782UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 6

HGNC Previous Name

cadherin 6, type 2, K-cadherin (fetal kidney)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004932.4

p.S306delins

c.916_917delinsCC

Surrounding Variants

1 paper

NM_004932.4

p.Y305C

c.914A>G

1 paper

NM_004932.4

p.D309N

c.925G>A

1 paper

NM_004932.4

p.D309G

c.926A>G

2 papers

NM_004932.4

p.G310S

c.928G>A

1 paper

NM_004932.4

p.E311K

c.931G>A

1 paper

NM_004932.4

p.A301S

c.901G>T

1 paper

NM_004932.4

p.G298A

c.893G>C

1 paper

NM_004932.4

p.D317N

c.949G>A

1 paper

NM_004932.4

p.D294D

c.882C>T

1 paper

NM_004932.4

p.D294N

c.880G>A

1 paper

NM_004932.4

p.D294H

c.880G>C

1 paper

NM_004932.4

p.D321N

c.961G>A