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.L99F

c.297G>C

Surrounding Variants

3 papers

NM_001282663.2

p.L99F

c.297G>T

1 paper

NM_001282663.2

p.L99fs

c.295_296fs

1 paper

NM_001282663.2

p.C97Y

c.290G>A

1 paper

NM_001282663.2

p.C97fs

c.289_290fs

1 paper

NM_001282663.2

p.I103I

c.309T>A

1 paper

NM_001282663.2

p.G94R

c.280G>A

1 paper

NM_001282663.2

p.G93A

c.278G>C

3 papers

NM_001282663.2

p.V113I

c.337G>A

1 paper

NM_001282663.2

p.E116V

c.347A>T

1 paper

NM_001282663.2

p.D136N

c.406G>A

1 paper

NM_001282663.2

p.R138H

c.413G>A

1 paper

NM_001282663.2

p.G139fs

c.415_416fs