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

1 paper

NM_020338.4

p.A981_P983del0

c.2942_2947del6

Surrounding Variants

1 paper

NM_020338.4

p.A981S

c.2941G>T

2 papers

NM_020338.4

p.A981_P982del1

c.2942_2944delCTC

1 paper

NM_020338.4

p.A981_P982del2

c.2941_2945del6

1 paper

NM_020338.4

p.A981_P983del3

c.2941_2948del9

3 papers

NM_020338.4

p.S979C

c.2935A>T

1 paper

NM_020338.4

p.P989T

c.2965C>A

1 paper

NM_020338.4

p.R991Q

c.2972G>A

1 paper

NM_020338.4

p.A997T

c.2989G>A

1 paper

NM_020338.4

p.Q960P

c.2879A>C

3 papers

NM_020338.4

p.D1005N

c.3013G>A

6 papers

NM_020338.4

p.T1007delFs

c.3021delC

1 paper

NM_020338.4

p.P955A

c.2863C>G