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

3 papers

NM_001039213.4

p.A375V

c.1124C>T

Surrounding Variants

1 paper

NM_001039213.4

p.R379W

c.1135C>T

1 paper

NM_001039213.4

p.P384H

c.1151C>A

1 paper

NM_001039213.4

p.P366L

c.1097C>T

1 paper

NM_001039213.4

p.L365P

c.1094T>C

3 papers

NM_001039213.4

p.L365R

c.1094T>G

1 paper

NM_001039213.4

p.L388P

c.1163T>C

1 paper

NM_001039213.4

p.T396A

c.1186A>G

1 paper

NM_001039213.4

p.D397E

c.1191C>A

1 paper

NM_001039213.4

p.D397E

c.1191C>G

1 paper

NM_001039213.4

p.R352C

c.1054C>T

1 paper

NM_001039213.4

p.G399delFs

c.1197delC

1 paper

NM_001039213.4

p.R400H

c.1199G>A