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.R7138H

c.21413G>A

Surrounding Variants

1 paper

NM_001394062.1

p.K7134E

c.21400A>G

1 paper

NM_001394062.1

p.W7132R

c.21394T>C

1 paper

NM_001394062.1

p.M7148T

c.21443T>C

1 paper

NM_012090.5

p.R5093W

c.15277C>T

1 paper

NM_001394062.1

p.D7199G

c.21596A>G

1 paper

NM_012090.5

p.R5030Q

c.15089G>A

1 paper

NM_001394062.1

p.K7043E

c.21127A>G

1 paper

NM_001394062.1

p.C7234S

c.21700T>A

1 paper

NM_001394062.1

p.C7234Y

c.21701G>A

1 paper

NM_001394062.1

p.C7234S

c.21701G>C

1 paper

NM_001394062.1

p.C7236R

c.21706T>C

3 papers

NM_001394062.1

p.C7236F

c.21707G>T

NM_012090.5

p.C5177F

c.15530G>T