Varaico: Literature-Extracted Genetic Variants

Gene:ZMIZ1

ZMIZ1

145 papers

RefSeq Summary

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen rec...

Pfam Domains

Zmiz1_Naa 8–106UCSCZmiz1 N-terminal tetratricopeptide repeat domain
GBD-like_ZMIZ1_ZMIZ2aa 562–686UCSCZMIZ1/ZMIZ2 GBD-like domain
zf-MIZaa 738–787UCSCMIZ/SP-RING zinc finger

Gene Aliases

HGNC Name

zinc finger MIZ-type containing 1

HGNC Previous Symbol

RAI17

Papers
RefSeq ID
Protein change
DNA change
1–12 of 243 variants
9 papers
NM_020338.4
p.T300M
c.899C>T
8 papers
NM_020338.4
p.A287T
c.859G>A
8 papers
NM_020338.4
p.T298I
c.893C>T
8 papers
NM_020338.4
p.P918insFs
c.2752dupC
7 papers
NM_020338.4
p.K91R
c.272A>G
7 papers
NM_020338.4
p.T296K
c.887C>A
7 papers
NM_020338.4
p.Q920fs
c.2758_2759fs
6 papers
NM_020338.4
p.P462insFs
c.1386dupC
6 papers
NM_020338.4
p.T463fs
c.1387_1388fs
6 papers
NM_020338.4
p.T945delFs
c.2835delT
6 papers
NM_020338.4
p.T1007delFs
c.3021delC
6 papers
NM_020338.4
p.T1038insFs
c.3112dupA
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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."