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

1–12 of 202 variants

4 papers

NM_004932.4

p.R638Q

c.1913G>A

3 papers

NM_004932.4

p.G175S

c.523G>A

3 papers

NM_004932.4

p.S524L

c.1571C>T

2 papers

NM_004932.4

p.E230K

c.688G>A

2 papers

NM_004932.4

p.P269S

c.805C>T

2 papers

NM_004932.4

p.G310S

c.928G>A

2 papers

NM_004932.4

p.V347M

c.1039G>A

2 papers

NM_004932.4

p.E394K

c.1180G>A

2 papers

NM_004932.4

p.A412V

c.1235C>T

2 papers

NM_004932.4

p.T442K

c.1325C>A

2 papers

NM_004932.4

p.E487A

c.1460A>C

2 papers

NM_004932.4

p.S533G

c.1597A>G