Varaico: Literature-Extracted Genetic Variants

MACF1

269 papers

RefSeq Summary

This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytosk...

Pfam Domains

CHaa 41–177UCSCCalponin homology (CH) domain

CHaa 189–294UCSCCalponin homology (CH) domain

Spectrin_4aa 420–519UCSCSpectrin-like repeat

Spectrin_3aa 784–851UCSCSpectrin-like repeat

SH3_10aa 852–918UCSCSH3 domain

Spectrin_2aa 953–1030UCSCSpectrin like domain

Gene Aliases

HGNC Name

microtubule actin crosslinking factor 1

HGNC Previous Symbol

KIAA0754

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001394062.1

p.E297A

c.890A>C

Surrounding Variants

2 papers

NM_001394062.1

p.E297Q

c.889G>C

1 paper

NM_012090.5

p.G306R

c.916G>A

1 paper

NM_012090.5

p.G306R

c.916G>C

1 paper

NM_001394062.1

p.S287*

c.860C>A

1 paper

NM_001394062.1

p.Y284_V285delFs

c.852_855del4

1 paper

NM_001394062.1

p.P276T

c.826C>A

1 paper

NM_001394062.1

p.L266delFs

c.797delT

1 paper

NM_001394062.1

p.E258G

c.773A>G

1 paper

NM_001394062.1

p.V256L

c.766G>T

1 paper

NM_001394062.1

p.F254_E255insFs

c.762_763ins10

1 paper

NM_001394062.1

p.F254Y

c.761T>A

1 paper

NM_001394062.1

p.F254fs

c.760_761fs