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.R5839C

c.17515C>T

Surrounding Variants

1 paper

NM_001394062.1

p.T5892N

c.17675C>A

1 paper

NM_001394062.1

p.R5904L

c.17711G>T

1 paper

NM_001394062.1

p.P5913L

c.17738C>T

1 paper

NM_012090.5

p.D3706E

c.11118T>A

1 paper

NM_012090.5

p.D3706E

c.11118T>G

1 paper

NM_001394062.1

p.V5722G

c.17165T>G

1 paper

NM_001394062.1

p.A5990G

c.17969C>G

1 paper

NM_001394062.1

p.V5685G

c.17054T>G

1 paper

NM_001394062.1

p.G5642D

c.16925G>A

1 paper

NM_001394062.1

p.Q5627*

c.16879C>T

1 paper

NM_012090.5

p.N3551_D3553del3

c.10651_10658del9

1 paper

NM_012090.5

p.A3540V

c.10619C>T