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.N2757H

c.8269A>C

Surrounding Variants

1 paper

NM_001394062.1

p.N2757fs

c.8269_8270fs

1 paper

NM_001394062.1

p.N2757delFs

c.8269delA

1 paper

NM_001394062.1

p.E2777Q

c.8329G>C

1 paper

NM_001394062.1

p.V2781L

c.8341G>C

1 paper

NM_001394062.1

p.C2782insFs

c.8345_8346insA

1 paper

NM_001394062.1

p.E2710K

c.8128G>A

1 paper

NM_001394062.1

p.C2805Y

c.8414G>A

1 paper

NM_001394062.1

p.A2705T

c.8113G>A

1 paper

NM_001394062.1

p.Q2823R

c.8468A>G

1 paper

NM_001394062.1

p.K2827N

c.8481A>C

1 paper

NM_001394062.1

p.K2827N

c.8481A>T

1 paper

NM_001394062.1

p.A2686S

c.8056G>T