Varaico: Literature-Extracted Genetic Variants

MIB1

203 papers

RefSeq Summary

This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitina...

Pfam Domains

MIB_HERC2aa 15–72UCSCMib_herc2

ZZaa 79–124UCSCZinc finger, ZZ type

MIB_HERC2aa 154–219UCSCMib_herc2

SH3_15aa 246–311UCSCMind bomb SH3 repeat domain

SH3_15aa 333–397UCSCMind bomb SH3 repeat domain

Ank_2aa 435–527UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

MIB E3 ubiquitin protein ligase 1

HGNC Alias Symbols

DIP-1; KIAA1323; ZZANK2; ZZZ6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020774.4

p.D778N

c.2332G>A

Surrounding Variants

1 paper

NM_020774.4

p.D778H

c.2332G>C

1 paper

NM_020774.4

p.D778Y

c.2332G>T

1 paper

NM_020774.4

p.D778V

c.2333A>T

2 papers

NM_020774.4

p.P776R

c.2327C>G

1 paper

NM_020774.4

p.Q774Q

c.2322A>G

1 paper

NM_020774.4

p.P783_N784del2

c.2347_2351del6

1 paper

NM_020774.4

p.R769L

c.2306G>T

1 paper

NM_020774.4

p.R769*

c.2305C>T

1 paper

NM_020774.4

p.A788E

c.2363C>A

1 paper

NM_020774.4

p.A790_K791insFs

c.2370_2371insCT

1 paper

NM_020774.4

p.K791fs

c.2371_2372fs

1 paper

NM_020774.4

p.N762S

c.2285A>G