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.F537V

c.1609T>G

Surrounding Variants

1 paper

NM_004932.4

p.G534S

c.1600G>A

2 papers

NM_004932.4

p.S533G

c.1597A>G

1 paper

NM_004932.4

p.N542I

c.1625A>T

3 papers

NM_004932.4

p.S524L

c.1571C>T

1 paper

NM_004932.4

p.G520G

c.1560A>G

1 paper

NM_004932.4

p.G520R

c.1558G>A

1 paper

NM_004932.4

p.G520R

c.1558G>C

1 paper

NM_004932.4

p.D515N

c.1543G>A

1 paper

NM_004932.4

p.H510Q

c.1530T>A

1 paper

NM_004932.4

p.H510Q

c.1530T>G

1 paper

NM_004932.4

p.L509L

c.1525C>T

1 paper

NM_004932.4

p.N545D

c.1633A>G