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.S67R

c.199A>C

Surrounding Variants

1 paper

NM_001039213.4

p.S67R

c.201C>A

1 paper

NM_001039213.4

p.S67R

c.201C>G

1 paper

NM_001039213.4

p.V70M

c.208G>A

1 paper

NM_001039213.4

p.D74N

c.220G>A

1 paper

NM_001039213.4

p.T82M

c.245C>T

1 paper

NM_001039213.4

p.R84Q

c.251G>A

1 paper

NM_001039213.4

p.L48L

c.144G>A

1 paper

NM_001039213.4

p.E47K

c.139G>A

1 paper

NM_001039213.4

p.E47*

c.139G>T

2 papers

NM_001039213.4

p.S45L

c.134C>T

1 paper

NM_001039213.4

p.P89S

c.265C>T

1 paper

NM_001039213.4

p.D90insFs

c.269dupA