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.D779H

c.2335G>C

Surrounding Variants

1 paper

NM_004932.4

p.A778P

c.2332G>C

1 paper

NM_004932.4

p.V784M

c.2350G>A

1 paper

NM_004932.4

p.R773Q

c.2318G>A

1 paper

NM_004932.4

p.P772S

c.2314C>T

1 paper

NM_004932.4

p.L767R

c.2300T>G

2 papers

NM_004932.4

p.L767F

c.2299C>T

1 paper

NM_004932.4

p.D763N

c.2287G>A

1 paper

NM_004932.4

p.E754A

c.2261A>C

2 papers

NM_004932.4

p.L753V

c.2257C>G

1 paper

NM_004932.4

p.S749F

c.2246C>T

1 paper

NM_004932.4

p.D748E

c.2244T>A

1 paper

NM_004932.4

p.D748E

c.2244T>G