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

2 papers

NM_004932.4

p.E230K

c.688G>A

Surrounding Variants

1 paper

NM_004932.4

p.R229K

c.686G>A

1 paper

NM_004932.4

p.V235L

c.703G>C

1 paper

NM_004932.4

p.V235L

c.703G>T

1 paper

NM_004932.4

p.Q237R

c.710A>G

1 paper

NM_004932.4

p.D240Y

c.718G>T

1 paper

NM_004932.4

p.T219A

c.655A>G

1 paper

NM_004932.4

p.G243S

c.727G>A

1 paper

NM_004932.4

p.M245I

c.735G>A

1 paper

NM_004932.4

p.M245I

c.735G>C

1 paper

NM_004932.4

p.M245I

c.735G>T

1 paper

NM_004932.4

p.T251I

c.752C>T

1 paper

NM_004932.4

p.T259I

c.776C>T