Varaico: Literature-Extracted Genetic Variants

MICAL2

113 papers

RefSeq Summary

The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signalin...

Pfam Domains

FAD_binding_3aa 86–141UCSCFAD binding domain

Rossman_Micalaa 241–370UCSCMical, Rossman domain

CHaa 517–623UCSCCalponin homology (CH) domain

LIMaa 1002–1060UCSCLIM domain

bMERB_domaa 1809–1943UCSCBivalent Mical/EHBP Rab binding domain

Gene Aliases

HGNC Name

microtubule associated monooxygenase, calponin and LIM domain containing 2

HGNC Previous Symbol

MICALCL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282663.2

p.I456ins2

c.1367_1368ins6

Surrounding Variants

4 papers

NM_001282663.2

p.I456ins1

c.1366_1367insCTC

4 papers

NM_001282663.2

p.I456ins2

c.1366_1367ins6

1 paper

NM_001282663.2

p.I456ins3

c.1366_1367ins9

1 paper

NM_001282663.2

p.I456_N457del1

c.1367_1369delTCA

2 papers

NM_001282663.2

p.I456_N457del2

c.1366_1370del6

1 paper

NM_001282663.2

p.N459ins1

c.1375_1376insCTC

1 paper

NM_001282663.2

p.E461Q

c.1381G>C

1 paper

NM_001282663.2

p.T464_Y471del0

c.1392_1412del21

1 paper

NM_001282663.2

p.R446W

c.1336C>T

1 paper

NM_001282663.2

p.R470ins0

c.1408_1410dupCGG

1 paper

NM_001282663.2

p.R470_Y471ins1

c.1410_1411insCCT

2 papers

NM_001282663.2

p.V479I

c.1435G>A