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.R2523K

c.7568G>A

Surrounding Variants

1 paper

NM_001394062.1

p.H2510H

c.7530T>C

1 paper

NM_001394062.1

p.Q2501E

c.7501C>G

1 paper

NM_001394062.1

p.N2554S

c.7661A>G

1 paper

NM_001394062.1

p.D2485G

c.7454A>G

1 paper

NM_001394062.1

p.I2588T

c.7763T>C

1 paper

NM_001394062.1

p.R2456G

c.7366A>G

1 paper

NM_001394062.1

p.K2599E

c.7795A>G

1 paper

NM_001394062.1

p.D2435N

c.7303G>A

1 paper

NM_001394062.1

p.R2416*

c.7246C>T

2 papers

NM_001394062.1

p.K2415R

c.7244A>G

1 paper

NM_001394062.1

p.K2635R

c.7904A>G

1 paper

NM_001394062.1

p.E2648*

c.7942G>T