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

3 papers

NM_001394062.1

p.G5228C

c.15682G>T

Surrounding Variants

1 paper

NM_001394062.1

p.T5213I

c.15638C>T

1 paper

NM_012090.5

p.N3144T

c.9431A>C

1 paper

NM_001394062.1

p.L5202R

c.15605T>G

1 paper

NM_001394062.1

p.R5200fs

c.15598_15599fs

1 paper

NM_001394062.1

p.R5200delFs

c.15599delG

1 paper

NM_012090.5

p.L3206S

c.9617T>C

1 paper

NM_001394062.1

p.R5163W

c.15487C>T

1 paper

NM_012090.5

p.E3098K

c.9292G>A

1 paper

NM_001394062.1

p.A5147G

c.15440C>G

1 paper

NM_001394062.1

p.L5089P

c.15266T>C

1 paper

NM_001394062.1

p.D5082A

c.15245A>C

1 paper

NM_001394062.1

p.L5076delFs

c.15227delT