Varaico: Literature-Extracted Genetic Variants

CEACAM16

19q13.31-q13.32 (UCSC)OMIM PanelApp GTEx

82 papers

RefSeq Summary

The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cell...

Pfam Domains

V-setaa 27–127UCSCImmunoglobulin V-set domain

Ig_3aa 132–205UCSCImmunoglobulin domain

Ig_2aa 228–313UCSCImmunoglobulin domain

V-setaa 321–422UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

CEA cell adhesion molecule 16, tectorial membrane component

HGNC Alias Symbol

DFNA4B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001039213.4

p.G289R

c.865G>A

Surrounding Variants

1 paper

NM_001039213.4

p.G289R

c.865G>C

1 paper

NM_001039213.4

p.T290M

c.869C>T

1 paper

NM_001039213.4

p.T290T

c.870G>A

1 paper

NM_001039213.4

p.Q287fs

c.859_860fs

1 paper

NM_001039213.4

p.T292A

c.874A>G

1 paper

NM_001039213.4

p.A286T

c.856G>A

1 paper

NM_001039213.4

p.Q287delFs

c.859delC

1 paper

NM_001039213.4

p.C293Y

c.878G>A

1 paper

NM_001039213.4

p.D276G

c.827A>G

1 paper

NM_001039213.4

p.A306T

c.916G>A

1 paper

NM_001039213.4

p.V309M

c.925G>A

1 paper

NM_001039213.4

p.N267N

c.801C>T