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

3 papers

NM_001282663.2

p.R160H

c.479G>A

Surrounding Variants

1 paper

NM_001282663.2

p.F167L

c.501C>A

1 paper

NM_001282663.2

p.V175I

c.523G>A

1 paper

NM_001282663.2

p.P190fs

c.568_569fs

1 paper

NM_001282663.2

p.S212L

c.635C>T

1 paper

NM_001282663.2

p.R226K

c.677G>A

1 paper

NM_001282663.2

p.D155N

c.463G>A

1 paper

NM_001282663.2

p.G152_S153delFs

c.456_457delCT

1 paper

NM_001282663.2

p.K144T

c.431A>C

1 paper

NM_001282663.2

p.G139fs

c.415_416fs

1 paper

NM_001282663.2

p.R138H

c.413G>A

1 paper

NM_001282663.2

p.D136N

c.406G>A

1 paper

NM_001282663.2

p.E116V

c.347A>T