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

4 papers

NM_004932.4

p.R638Q

c.1913G>A

Surrounding Variants

1 paper

NM_004932.4

p.R638L

c.1913G>T

2 papers

NM_004932.4

p.R640*

c.1918C>T

1 paper

NM_004932.4

p.K641*

c.1921A>T

1 paper

NM_004932.4

p.A634V

c.1901C>T

1 paper

NM_004932.4

p.E643K

c.1927G>A

1 paper

NM_004932.4

p.P644H

c.1931C>A

1 paper

NM_004932.4

p.Y659H

c.1975T>C

1 paper

NM_004932.4

p.D661N

c.1981G>A

1 paper

NM_004932.4

p.E662K

c.1984G>A

1 paper

NM_004932.4

p.E662G

c.1985A>G

1 paper

NM_004932.4

p.G663R

c.1987G>C

1 paper

NM_004932.4

p.G665A

c.1994G>C