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.L1770insFs

c.5309_5310insG

Surrounding Variants

1 paper

NM_001394062.1

p.G1755R

c.5263G>A

1 paper

NM_001394062.1

p.M1799V

c.5395A>G

1 paper

NM_001394062.1

p.L1822L

c.5464C>T

1 paper

NM_001394062.1

p.A1835T

c.5503G>A

1 paper

NM_001394062.1

p.T1863insFs

c.5588_5589insG

1 paper

NM_001394062.1

p.A1654T

c.4960G>A

1 paper

NM_001394062.1

p.E1645*

c.4933G>T

1 paper

NM_001394062.1

p.L1632F

c.4894C>T

1 paper

NM_001394062.1

p.L1615Q

c.4844T>A

1 paper

NM_001394062.1

p.E1614*

c.4840G>T

1 paper

NM_001394062.1

p.M1929I

c.5787G>A

1 paper

NM_001394062.1

p.M1929I

c.5787G>C