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.R518R

c.1554G>C

Surrounding Variants

1 paper

NM_001282663.2

p.S520R

c.1558A>C

1 paper

NM_001282663.2

p.S520R

c.1560C>A

1 paper

NM_001282663.2

p.S520R

c.1560C>G

1 paper

NM_001282663.2

p.K521E

c.1561A>G

1 paper

NM_001282663.2

p.H556Q

c.1668C>A

1 paper

NM_001282663.2

p.H556Q

c.1668C>G

1 paper

NM_001282663.2

p.R557C

c.1669C>T

1 paper

NM_001282663.2

p.R557H

c.1670G>A

3 papers

NM_001282663.2

p.R559Q

c.1676G>A

1 paper

NM_001282663.2

p.R506del1

c.1516_1517delAGA

1 paper

NM_001282663.2

p.R505_R506del1

c.1515_1517delGAG

1 paper

NM_001282663.2

p.N564S

c.1691A>G