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.G403V

c.1208G>T

Surrounding Variants

1 paper

NM_004932.4

p.N399K

c.1197C>A

1 paper

NM_004932.4

p.A407T

c.1219G>A

1 paper

NM_004932.4

p.P410L

c.1229C>T

2 papers

NM_004932.4

p.A412V

c.1235C>T

2 papers

NM_004932.4

p.E394K

c.1180G>A

1 paper

NM_004932.4

p.I389M

c.1167C>G

1 paper

NM_004932.4

p.S384C

c.1150A>T

1 paper

NM_004932.4

p.V382D

c.1145T>A

1 paper

NM_004932.4

p.E379K

c.1135G>A

1 paper

NM_004932.4

p.D378Y

c.1132G>T

1 paper

NM_004932.4

p.D376N

c.1126G>A

1 paper

NM_004932.4

p.E375K

c.1123G>A