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.S1503F

c.4508C>T

Surrounding Variants

1 paper

NM_001394062.1

p.E1468delFs

c.4403delA

10 papers

NM_001394062.1

p.K1450N

c.4350A>T

1 paper

NM_001394062.1

p.L1429_L1430del2

c.4285_4289del6

1 paper

NM_001394062.1

p.E1417del1

c.4249_4251delGAG

1 paper

NM_001394062.1

p.M1561L

c.4681A>T

1 paper

NM_001394062.1

p.A1600delFs

c.4800delC

1 paper

NM_001394062.1

p.E1614*

c.4840G>T

1 paper

NM_001394062.1

p.L1615Q

c.4844T>A

1 paper

NM_001394062.1

p.L1632F

c.4894C>T

1 paper

NM_001394062.1

p.E1645*

c.4933G>T

1 paper

NM_001394062.1

p.A1654T

c.4960G>A

1 paper

NM_001394062.1

p.M1381V

c.4141A>G