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.Q5421delFs

c.16261_16262delCA

Surrounding Variants

1 paper

NM_001394062.1

p.Q5421fs

c.16261_16262fs

2 papers

NM_001394062.1

p.Q5421fs

c.16261_16262fs

1 paper

NM_001394062.1

p.I5406V

c.16216A>G

1 paper

NM_012090.5

p.A3374V

c.10121C>T

1 paper

NM_001394062.1

p.A5438V

c.16313C>T

1 paper

NM_001394062.1

p.A5394T

c.16180G>A

1 paper

NM_001394062.1

p.V5374V

c.16122G>A

2 papers

NM_012090.5

p.N3302S

c.9905A>G

NM_001394062.1

p.N5364S

c.16091A>G

1 paper

NM_001394062.1

p.Q5335*

c.16003C>T

1 paper

NM_012090.5

p.Q3226H

c.9678G>C

1 paper

NM_001394062.1

p.L5286L

c.15858G>A

1 paper

NM_001394062.1

p.Q5275Q

c.15825G>A