Varaico: Literature-Extracted Genetic Variants

TRIM16

45 papers

RefSeq Summary

The protein encoded by this gene is a tripartite motif (TRIM) family member that contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. ...

Pfam Domains

zf-B_boxaa 127–165UCSCB-box zinc finger

TRIM_CCaa 187–352UCSCTRIM protein coiled-coil region

PRYaa 375–424UCSCSPRY-associated domain

SPRYaa 428–548UCSCSPRY domain

Gene Aliases

HGNC Name

tripartite motif containing 16

HGNC Alias Symbol

EBBP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

3 papers

NM_001348119.1

p.S48*

c.143C>A

3 papers

NM_001348119.1

p.E121D

c.363G>T

2 papers

NM_001348119.1

p.E121D

c.363G>C

1 paper

NM_001348119.1

p.E3D

c.9G>T

1 paper

NM_001348119.1

p.G10G

c.30G>T

1 paper

NM_001348119.1

p.L12L

c.36G>T

1 paper

NM_001348119.1

p.R14M

c.41G>T

1 paper

NM_001348119.1

p.A15S

c.43G>T

1 paper

NM_001348119.1

p.Q18H

c.54G>C

1 paper

NM_001348119.1

p.G28V

c.83G>T

1 paper

NM_001348119.1

p.G28G

c.84G>T

1 paper

NM_001348119.1

p.D44D

c.132C>T