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

2 papers

NM_004932.4

p.G675S

c.2023G>A

Surrounding Variants

1 paper

NM_004932.4

p.G675C

c.2023G>T

1 paper

NM_004932.4

p.Q670fs

c.2008_2009fs

1 paper

NM_004932.4

p.G665A

c.1994G>C

1 paper

NM_004932.4

p.G663R

c.1987G>C

1 paper

NM_004932.4

p.E662G

c.1985A>G

1 paper

NM_004932.4

p.E662K

c.1984G>A

1 paper

NM_004932.4

p.D661N

c.1981G>A

2 papers

NM_004932.4

p.R689Q

c.2066G>A

1 paper

NM_004932.4

p.D691N

c.2071G>A

1 paper

NM_004932.4

p.Y659H

c.1975T>C

1 paper

NM_004932.4

p.E695K

c.2083G>A

1 paper

NM_004932.4

p.P700R

c.2099C>G