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

1–12 of 180 variants

4 papers

NM_001282663.2

p.I456ins1

c.1366_1367insCTC

4 papers

NM_001282663.2

p.I456ins2

c.1366_1367ins6

3 papers

NM_001282663.2

p.L99F

c.297G>C

3 papers

NM_001282663.2

p.L99F

c.297G>T

3 papers

NM_001282663.2

p.V113I

c.337G>A

3 papers

NM_001282663.2

p.R160H

c.479G>A

3 papers

NM_001282663.2

p.R559Q

c.1676G>A

2 papers

NM_001282663.2

p.D277V

c.830A>T

2 papers

NM_001282663.2

p.R340Q

c.1019G>A

2 papers

NM_001282663.2

p.A388G

c.1163C>G

2 papers

NM_001282663.2

p.A412V

c.1235C>T

2 papers

NM_001282663.2

p.I456_N457del2

c.1366_1370del6