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

1 paper

NM_020774.4

p.I837_A838insFs

c.2511_2514dup4

Surrounding Variants

1 paper

NM_020774.4

p.H836_T839del4

c.2506_2516del12

1 paper

NM_020774.4

p.T839fs

c.2515_2516fs

1 paper

NM_020774.4

p.L830_F831insFs

c.2490_2491insT

1 paper

NM_020774.4

p.S844Fs

c.2530_2532delinsCFs

1 paper

NM_020774.4

p.D828G

c.2483A>G

1 paper

NM_020774.4

p.M825V

c.2473A>G

1 paper

NM_020774.4

p.S810G

c.2428A>G

1 paper

NM_020774.4

p.S807A

c.2419T>G

1 paper

NM_020774.4

p.R804Q

c.2411G>A

1 paper

NM_020774.4

p.R804W

c.2410C>T

1 paper

NM_020774.4

p.K791fs

c.2371_2372fs

1 paper

NM_020774.4

p.A790_K791insFs

c.2370_2371insCT