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.E603K

c.1807G>A

Surrounding Variants

1 paper

NM_004932.4

p.A604E

c.1811C>A

2 papers

NM_004932.4

p.H601H

c.1803T>C

1 paper

NM_004932.4

p.T609M

c.1826C>T

1 paper

NM_004932.4

p.G610R

c.1828G>A

1 paper

NM_004932.4

p.G595R

c.1783G>A

1 paper

NM_004932.4

p.G595R

c.1783G>C

1 paper

NM_004932.4

p.T613M

c.1838C>T

1 paper

NM_004932.4

p.D592N

c.1774G>A

1 paper

NM_004932.4

p.L620_L621del1

c.1860_1862delTCT

1 paper

NM_004932.4

p.L621del1

c.1861_1862delCTG

1 paper

NM_004932.4

p.V624V

c.1872G>A

2 papers

NM_004932.4

p.L626Q

c.1877T>A