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.A242V

c.725C>T

Surrounding Variants

1 paper

NM_001282663.2

p.I250T

c.749T>C

1 paper

NM_001282663.2

p.G231Splc

c.692-1G>A

1 paper

NM_001282663.2

p.A258T

c.772G>A

1 paper

NM_001282663.2

p.K259R

c.776A>G

1 paper

NM_001282663.2

p.G265R

c.793G>C

2 papers

NM_001282663.2

p.D277V

c.830A>T

1 paper

NM_001282663.2

p.V300fs

c.898_899fs

1 paper

NM_001282663.2

p.V300insFs

c.898_899ins7

1 paper

NM_001282663.2

p.A303T

c.907G>A

1 paper

NM_001282663.2

p.K305R

c.914A>G

1 paper

NM_001282663.2

p.R226K

c.677G>A

1 paper

NM_001282663.2

p.S212L

c.635C>T