Varaico: Literature-Extracted Genetic Variants

ZMIZ2

51 papers

RefSeq Summary

ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and en...

Pfam Domains

GBD-like_ZMIZ1_ZMIZ2aa 421–545UCSCZMIZ1/ZMIZ2 GBD-like domain

zf-MIZaa 596–645UCSCMIZ/SP-RING zinc finger

Gene Aliases

HGNC Name

zinc finger MIZ-type containing 2

HGNC Alias Symbols

KIAA1886; hZIMP7; ZIMP7; DKFZp761I2123; NET27

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031449.4

p.R360L

c.1079G>T

Surrounding Variants

1 paper

NM_031449.4

p.S381_S382ins6

c.1141_1145ins18

1 paper

NM_031449.4

p.L408F

c.1224G>C

1 paper

NM_031449.4

p.L408F

c.1224G>T

1 paper

NM_031449.4

p.A341T

c.1021G>A

1 paper

NM_031449.4

p.P325L

c.974C>T

1 paper

NM_031449.4

p.M316L

c.946A>C

1 paper

NM_031449.4

p.M316L

c.946A>T

1 paper

NM_031449.4

p.G315A

c.944G>C

1 paper

NM_031449.4

p.D419N

c.1255G>A

1 paper

NM_031449.4

p.P435L

c.1304C>T

1 paper

NM_031449.4

p.P293L

c.878C>T

1 paper

NM_031449.4

p.Q439*

c.1315C>T