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

1–12 of 428 variants

10 papers

NM_001394062.1

p.K1450N

c.4350A>T

5 papers

NM_001394062.1

p.S815I

c.2444G>T

4 papers

NM_001394062.1

p.P3101S

c.9301C>T

3 papers

NM_001394062.1

p.K1361T

c.4082A>C

3 papers

NM_001394062.1

p.G5228C

c.15682G>T

3 papers

NM_001394062.1

p.Q7025_T7026Splc

c.21075+1G>A

2 papers

NM_001394062.1

p.E297Q

c.889G>C

2 papers

NM_001394062.1

p.V913F

c.2737G>T

2 papers

NM_001394062.1

p.Q2106*

c.6316C>T

2 papers

NM_001394062.1

p.M2331V

c.6991A>G

2 papers

NM_001394062.1

p.K2415R

c.7244A>G

2 papers

NM_001394062.1

p.R2829delFs

c.8485delA