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.L366fs

c.1096_1097fs

Surrounding Variants

1 paper

NM_020774.4

p.L366fs

c.1096_1097fs

1 paper

NM_020774.4

p.G367delFs

c.1099_1100delGG

2 papers

NM_020774.4

p.L366delFs

c.1096_1097delTT

4 papers

NM_020774.4

p.R371*

c.1111C>T

1 paper

NM_020774.4

p.D380N

c.1138G>A

1 paper

NM_020774.4

p.E384A

c.1151A>C

1 paper

NM_020774.4

p.E384G

c.1151A>G

1 paper

NM_020774.4

p.Y392*

c.1176C>A

1 paper

NM_020774.4

p.Y392*

c.1176C>G

1 paper

NM_020774.4

p.S402Y

c.1205C>A

1 paper

NM_020774.4

p.A403_G404delFs

c.1209_1212del4

1 paper

NM_020774.4

p.N409D

c.1225A>G