Varaico: Literature-Extracted Genetic Variants

Gene:TRIM60
Variant:p.E320*

TRIM60

25 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions....

Pfam Domains

zf-C3HC4_4aa 16–56UCSCzinc finger of C3HC4-type, RING
zf-B_boxaa 92–133UCSCB-box zinc finger
PRYaa 297–345UCSCSPRY-associated domain
SPRYaa 349–465UCSCSPRY domain

Gene Aliases

HGNC Name

tripartite motif containing 60

HGNC Previous Symbols

RNF129; RNF33

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152620.3
p.E320*
c.958G>T
Surrounding Variants
1 paper
NM_152620.3
p.R324*
c.970C>T
1 paper
NM_152620.3
p.R324fs
c.970_971fs
1 paper
NM_152620.3
p.E353D
c.1059A>C
1 paper
NM_152620.3
p.E353D
c.1059A>T
1 paper
NM_152620.3
p.V354I
c.1060G>A
1 paper
NM_152620.3
p.C370S
c.1108T>A
1 paper
NM_152620.3
p.C370S
c.1109G>C
1 paper
NM_152620.3
p.C370_L371del1
c.1110_1112delTCT
1 paper
NM_152620.3
p.S269fs
c.805_806fs
1 paper
NM_152620.3
p.F268_S269delFs
c.804_805delTT
1 paper
NM_152620.3
p.Q260R
c.779A>G
1 paper
NM_152620.3
p.M255R
c.764T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."