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.G197S

c.589G>A

Surrounding Variants

1 paper

NM_001039213.4

p.G197_A198insFs

c.590_594dup5

1 paper

NM_001039213.4

p.R193Q

c.578G>A

1 paper

NM_001039213.4

p.V203A

c.608T>C

2 papers

NM_001039213.4

p.R184Q

c.551G>A

1 paper

NM_001039213.4

p.S180Y

c.539C>A

2 papers

NM_001039213.4

p.S180F

c.539C>T

1 paper

NM_001039213.4

p.R176H

c.527G>A

1 paper

NM_001039213.4

p.A170T

c.508G>A

1 paper

NM_001039213.4

p.G169E

c.506G>A

11 papers

NM_001039213.4

p.G169R

c.505G>A

10 papers

NM_001039213.4

p.G169R

c.505G>C

1 paper

NM_001039213.4

p.E161K

c.481G>A