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.V80L

c.238G>C

Surrounding Variants

1 paper

NM_020338.4

p.V80L

c.238G>T

1 paper

NM_020338.4

p.R85*

c.253C>T

2 papers

NM_020338.4

p.R85Q

c.254G>A

7 papers

NM_020338.4

p.K91R

c.272A>G

1 paper

NM_020338.4

p.G68S

c.202G>A

2 papers

NM_020338.4

p.S61I

c.182G>T

1 paper

NM_020338.4

p.T58M

c.173C>T

1 paper

NM_020338.4

p.Q51K

c.151C>A

1 paper

NM_020338.4

p.P42T

c.124C>A

1 paper

NM_020338.4

p.F28S

c.83T>C

1 paper

NM_020338.4

p.A26A

c.78C>A

1 paper

NM_020338.4

p.Q23*

c.67C>T