Varaico: Literature-Extracted Genetic Variants

Gene:ZMIZ1
Variant:p.L1014*

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
Selected Variant
2 papers
NM_020338.4
p.L1014*
c.3041T>G
Surrounding Variants
2 papers
NM_020338.4
p.L1014*
c.3041T>A
2 papers
NM_020338.4
p.L1014insFs
c.3042dupA
1 paper
NM_020338.4
p.E1015fs
c.3043_3044fs
1 paper
NM_020338.4
p.E1015fs
c.3043_3044fs
1 paper
NM_020338.4
p.S1011F
c.3032C>T
1 paper
NM_020338.4
p.G1019A
c.3056G>C
1 paper
NM_020338.4
p.F1008fs
c.3022_3023fs
5 papers
NM_020338.4
p.F1008fs
c.3022_3023fs
6 papers
NM_020338.4
p.T1007delFs
c.3021delC
3 papers
NM_020338.4
p.D1005N
c.3013G>A
1 paper
NM_020338.4
p.D1025_M1026insG
c.3073_3077ins3
1 paper
NM_020338.4
p.M1026T
c.3077T>C
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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."