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

2 papers

NM_001039213.4

p.A13S

c.37G>T

Surrounding Variants

1 paper

NM_001039213.4

p.A13P

c.37G>C

1 paper

NM_001039213.4

p.S12N

c.35G>A

1 paper

NM_001039213.4

p.S12delFs

c.35delG

1 paper

NM_001039213.4

p.A13Splc

c.37+7G>A

1 paper

NM_001039213.4

p.L10P

c.29T>C

1 paper

NM_001039213.4

p.A2V

c.5C>T

1 paper

NM_001039213.4

p.F15L

c.43T>C

1 paper

NM_001039213.4

p.F15L

c.45C>A

1 paper

NM_001039213.4

p.F15L

c.45C>G

1 paper

NM_001039213.4

p.T25P

c.73A>C

1 paper

NM_001039213.4

p.E27_P28Fs

c.79_82delinsAGAFs

1 paper

NM_001039213.4

p.A29T

c.85G>A