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.S439L

c.1316C>T

Surrounding Variants

2 papers

NM_004932.4

p.T442K

c.1325C>A

1 paper

NM_004932.4

p.G436E

c.1307G>A

1 paper

NM_004932.4

p.I433S

c.1298T>G

1 paper

NM_004932.4

p.L446F

c.1336C>T

1 paper

NM_004932.4

p.F431S

c.1292T>C

1 paper

NM_004932.4

p.R448fs

c.1342_1343fs

1 paper

NM_004932.4

p.R448delFs

c.1343delG

1 paper

NM_004932.4

p.T450I

c.1349C>T

1 paper

NM_004932.4

p.N464D

c.1390A>G

1 paper

NM_004932.4

p.K467R

c.1400A>G

1 paper

NM_004932.4

p.R471Q

c.1412G>A

1 paper

NM_004932.4

p.A485T

c.1453G>A