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.P462insFs

c.1386dupC

Surrounding Variants

1 paper

NM_020338.4

p.P460S

c.1378C>T

1 paper

NM_020338.4

p.T463fs

c.1387_1388fs

6 papers

NM_020338.4

p.T463fs

c.1387_1388fs

1 paper

NM_020338.4

p.Q458*

c.1372C>T

1 paper

NM_020338.4

p.T463M

c.1388C>T

1 paper

NM_020338.4

p.P454P

c.1362G>A

1 paper

NM_020338.4

p.Q453*

c.1357C>T

1 paper

NM_020338.4

p.Q468H

c.1404G>C

1 paper

NM_020338.4

p.Q468H

c.1404G>T

1 paper

NM_020338.4

p.M450I

c.1350G>A

1 paper

NM_020338.4

p.M450I

c.1350G>C

1 paper

NM_020338.4

p.M450I

c.1350G>T