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

4 papers

NM_001394062.1

p.P3101S

c.9301C>T

Surrounding Variants

1 paper

NM_001394062.1

p.S3099_E3100insCC

c.9295_9299ins6

1 paper

NM_001394062.1

p.P3126P

c.9378A>T

1 paper

NM_001394062.1

p.R3207_L3210delFs

c.9619_9629del11

1 paper

NM_001394062.1

p.G3253R

c.9757G>A

1 paper

NM_001394062.1

p.V2942M

c.8824G>A

2 papers

NM_001394062.1

p.E3302G

c.9905A>G

1 paper

NM_001394062.1

p.K2876E

c.8626A>G

1 paper

NM_001394062.1

p.P2870H

c.8609C>A

1 paper

NM_001394062.1

p.G3345D

c.10034G>A

1 paper

NM_001394062.1

p.E3349E

c.10047G>A

2 papers

NM_001394062.1

p.R2829delFs

c.8485delA

1 paper

NM_001394062.1

p.K2827N

c.8481A>C