Varaico: Literature-Extracted Genetic Variants

TRIM27

622 papers

RefSeq Summary

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein ...

Pfam Domains

zf-C3HC4_4aa 16–56UCSCzinc finger of C3HC4-type, RING

zf-B_boxaa 91–132UCSCB-box zinc finger

PRYaa 318–366UCSCSPRY-associated domain

SPRYaa 370–488UCSCSPRY domain

Gene Aliases

HGNC Name

tripartite motif containing 27

HGNC Previous Symbol

RFP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 256 variants

3 papers

NM_006510.5

p.C9S

c.25T>A

3 papers

NM_006510.5

p.Q80L

c.239A>T

3 papers

NM_006510.5

p.E97K

c.289G>A

3 papers

NM_006510.5

p.S315T

c.943T>A

2 papers

NM_006510.5

p.C43G

c.127T>G

2 papers

NM_006510.5

p.S52A

c.154T>G

2 papers

NM_006510.5

p.E84K

c.250G>A

2 papers

NM_006510.5

p.K98Q

c.292A>C

2 papers

NM_006510.5

p.K194E

c.580A>G

2 papers

NM_006510.5

p.E197A

c.590A>C

2 papers

NM_006510.5

p.R245W

c.733A>T

2 papers

NM_006510.5

p.K292insFs

c.874_875insG