Varaico: Literature-Extracted Genetic Variants

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

6 papers

NM_020338.4

p.T945delFs

c.2835delT

Surrounding Variants

1 paper

NM_020338.4

p.L938fs

c.2812_2813fs

1 paper

NM_020338.4

p.L938insFs

c.2812dupC

1 paper

NM_020338.4

p.E935E

c.2805G>A

1 paper

NM_020338.4

p.L934P

c.2801T>C

1 paper

NM_020338.4

p.P924L

c.2771C>T

2 papers

NM_020338.4

p.H923fs

c.2767_2768fs

1 paper

NM_020338.4

p.Q920fs

c.2758_2759fs

1 paper

NM_020338.4

p.Q920*

c.2758C>T

7 papers

NM_020338.4

p.Q920fs

c.2758_2759fs

1 paper

NM_020338.4

p.P919L

c.2756C>T

8 papers

NM_020338.4

p.P918insFs

c.2752dupC

1 paper

NM_020338.4

p.G917R

c.2749G>A