Varaico: Literature-Extracted Genetic Variants

TRIM69

36 papers

RefSeq Summary

This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this...

Pfam Domains

zf-C3HC4_4aa 41–81UCSCzinc finger of C3HC4-type, RING

PRYaa 88–136UCSCSPRY-associated domain

SPRYaa 140–256UCSCSPRY domain

Gene Aliases

HGNC Name

tripartite motif containing 69

HGNC Previous Symbol

RNF36

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182985.5

p.L214P

c.641T>C

Surrounding Variants

1 paper

NM_182985.5

p.Q212P

c.635A>C

1 paper

NM_182985.5

p.L199R

c.596T>G

1 paper

NM_182985.5

p.E194E

c.582A>G

1 paper

NM_182985.5

p.Q242*

c.724C>T

1 paper

NM_182985.5

p.Q258Q

c.774G>A

1 paper

NM_182985.5

p.P320fs

c.958_959fs

1 paper

NM_182985.5

p.A190V

c.569C>T

1 paper

NM_182985.5

p.T161M

c.482C>T

1 paper

NM_182985.5

p.K148R

c.443A>G

1 paper

NM_182985.5

p.L142F

c.426G>C

1 paper

NM_182985.5

p.A140V

c.419C>T

1 paper

NM_182985.5

p.H118R

c.353A>G