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

2 papers

NM_001282663.2

p.K597N

c.1791A>C

Surrounding Variants

1 paper

NM_001282663.2

p.I590N

c.1769T>A

1 paper

NM_001282663.2

p.E587*

c.1759G>T

1 paper

NM_001282663.2

p.F581I

c.1741T>A

1 paper

NM_001282663.2

p.E575D

c.1725G>T

1 paper

NM_001282663.2

p.P625S

c.1873C>T

2 papers

NM_001282663.2

p.L626Q

c.1877T>A

2 papers

NM_001282663.2

p.D630Splc

c.1888+1G>A

1 paper

NM_001282663.2

p.N564S

c.1691A>G

2 papers

NM_001282663.2

p.Y636C

c.1907A>G

1 paper

NM_001282663.2

p.A645V

c.1934C>T

1 paper

NM_001282663.2

p.R660T

c.1979G>C

3 papers

NM_001282663.2

p.R559Q

c.1676G>A