Varaico: Literature-Extracted Genetic Variants

CDH13

254 papers

RefSeq Summary

This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The...

Pfam Domains

Cadherin_proaa 26–112UCSCCadherin prodomain like

Cadherinaa 143–236UCSCCadherin domain

Cadherinaa 250–354UCSCCadherin domain

Cadherinaa 368–469UCSCCadherin domain

Cadherinaa 484–576UCSCCadherin domain

Cadherinaa 588–680UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 13

HGNC Alias Symbol

CDHH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001257.5

p.K59E

c.175A>G

Surrounding Variants

1 paper

NM_001257.5

p.D57V

c.170A>T

1 paper

NM_001257.5

p.S56N

c.167G>A

1 paper

NM_001257.5

p.D62E

c.186C>A

1 paper

NM_001257.5

p.D62E

c.186C>G

1 paper

NM_001257.5

p.K63N

c.189G>C

1 paper

NM_001257.5

p.K63N

c.189G>T

1 paper

NM_001257.5

p.L64L

c.192A>G

1 paper

NM_001257.5

p.R65C

c.193C>T

1 paper

NM_001257.5

p.E67K

c.199G>A

1 paper

NM_001257.5

p.E67G

c.200A>G

1 paper

NM_001257.5

p.S69T

c.205T>A

1 paper

NM_001257.5

p.S69L

c.206C>T