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.E722K

c.2164G>A

Surrounding Variants

1 paper

NM_004932.4

p.E722E

c.2166A>G

1 paper

NM_004932.4

p.D724N

c.2170G>A

1 paper

NM_004932.4

p.Q718H

c.2154A>C

1 paper

NM_004932.4

p.Q718H

c.2154A>T

1 paper

NM_004932.4

p.D726N

c.2176G>A

1 paper

NM_004932.4

p.P730L

c.2189C>T

1 paper

NM_004932.4

p.P730P

c.2190G>T

1 paper

NM_004932.4

p.Y732Y

c.2196C>T

1 paper

NM_004932.4

p.D711Y

c.2131G>T

1 paper

NM_004932.4

p.E741K

c.2221G>A

1 paper

NM_004932.4

p.P700R

c.2099C>G

1 paper

NM_004932.4

p.V746M

c.2236G>A