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

1–12 of 96 variants

11 papers

NM_001039213.4

p.G169R

c.505G>A

10 papers

NM_001039213.4

p.T140P

c.418A>C

10 papers

NM_001039213.4

p.G169R

c.505G>C

4 papers

NM_001039213.4

p.R146*

c.436C>T

3 papers

NM_001039213.4

p.F221Splc

c.662-1G>C

3 papers

NM_001039213.4

p.L365R

c.1094T>G

3 papers

NM_001039213.4

p.A375V

c.1124C>T

2 papers

NM_001039213.4

p.A13S

c.37G>T

2 papers

NM_001039213.4

p.V37I

c.109G>A

2 papers

NM_001039213.4

p.S45L

c.134C>T

2 papers

NM_001039213.4

p.T140A

c.418A>G

2 papers

NM_001039213.4

p.T140I

c.419C>T