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.F787S

c.2360T>C

Surrounding Variants

5 papers

NM_001394062.1

p.S815I

c.2444G>T

1 paper

NM_001394062.1

p.Q762_L763ins10

c.2284_2288ins30

1 paper

NM_001394062.1

p.E744G

c.2231A>G

1 paper

NM_001394062.1

p.E726K

c.2176G>A

1 paper

NM_001394062.1

p.E725V

c.2174A>T

1 paper

NM_001394062.1

p.D828N

c.2482G>A

1 paper

NM_012090.5

p.S852*

c.2555C>A

1 paper

NM_012090.5

p.S852*

c.2555C>G

1 paper

NM_001394062.1

p.Q852_P855del4

c.2554_2564del12

1 paper

NM_001394062.1

p.R856C

c.2566C>T

1 paper

NM_001394062.1

p.Y874insFs

c.2621_2622insA

1 paper

NM_001394062.1

p.D702Y

c.2104G>T