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.D702Y

c.2104G>T

Surrounding Variants

1 paper

NM_001394062.1

p.A700S

c.2098G>T

1 paper

NM_001394062.1

p.E698K

c.2092G>A

1 paper

NM_001394062.1

p.E696*

c.2086G>T

1 paper

NM_001394062.1

p.T685I

c.2054C>T

1 paper

NM_001394062.1

p.H678R

c.2033A>G

1 paper

NM_001394062.1

p.Q675*

c.2023C>T

1 paper

NM_012090.5

p.H678R

c.2033A>G

1 paper

NM_001394062.1

p.R670R

c.2010G>T

1 paper

NM_001394062.1

p.E725V

c.2174A>T

1 paper

NM_001394062.1

p.E726K

c.2176G>A

1 paper

NM_001394062.1

p.E744G

c.2231A>G

1 paper

NM_001394062.1

p.V631A

c.1892T>C