Varaico: Literature-Extracted Genetic Variants

MICAL1

65 papers

RefSeq Summary

This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neur...

Pfam Domains

FAD_binding_3aa 84–139UCSCFAD binding domain

Rossman_Micalaa 236–365UCSCMical, Rossman domain

CHaa 508–613UCSCCalponin homology (CH) domain

LIMaa 697–754UCSCLIM domain

bMERB_domaa 931–1062UCSCBivalent Mical/EHBP Rab binding domain

Gene Aliases

HGNC Name

microtubule associated monooxygenase, calponin and LIM domain containing 1

HGNC Previous Symbol

NICAL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022765.4

p.F14delFs

c.41_42delAA

Surrounding Variants

1 paper

NM_022765.4

p.L18Q

c.53T>A

1 paper

NM_022765.4

p.L37Q

c.110T>A

1 paper

NM_022765.4

p.E40V

c.119A>T

1 paper

NM_022765.4

p.Y57H

c.169T>C

1 paper

NM_022765.4

p.Q78K

c.232C>A

1 paper

NM_022765.4

p.R80W

c.238C>T

1 paper

NM_022765.4

p.C82Y

c.245G>A

1 paper

NM_022765.4

p.G96W

c.286G>T

2 papers

NM_022765.4

p.G96R

c.286G>C

2 papers

NM_022765.4

p.G96R

c.286G>A

1 paper

NM_022765.4

p.R98W

c.292C>T

1 paper

NM_022765.4

p.R98Q

c.293G>A