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.V139M

c.415G>A

Surrounding Variants

1 paper

NM_004932.4

p.E140K

c.418G>A

1 paper

NM_004932.4

p.E140Q

c.418G>C

1 paper

NM_004932.4

p.R134K

c.401G>A

1 paper

NM_004932.4

p.E144K

c.430G>A

1 paper

NM_004932.4

p.R133K

c.398G>A

1 paper

NM_004932.4

p.N132Y

c.394A>T

1 paper

NM_004932.4

p.K148M

c.443A>T

1 paper

NM_004932.4

p.Q129*

c.385C>T

1 paper

NM_004932.4

p.R127*

c.379C>T

1 paper

NM_004932.4

p.D151N

c.451G>A

1 paper

NM_004932.4

p.Y124*

c.372C>A

1 paper

NM_004932.4

p.Y124*

c.372C>G