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

2 papers

NM_001394062.1

p.Q5060R

c.15179A>G

Surrounding Variants

1 paper

NM_001394062.1

p.Q5060fs

c.15178_15179fs

1 paper

NM_001394062.1

p.L5059_P5064delFs

c.15177_15192del16

1 paper

NM_001394062.1

p.L5076delFs

c.15227delT

1 paper

NM_001394062.1

p.D5082A

c.15245A>C

1 paper

NM_001394062.1

p.L5089P

c.15266T>C

1 paper

NM_001394062.1

p.N5021I

c.15062A>T

1 paper

NM_001394062.1

p.Q5016L

c.15047A>T

1 paper

NM_001394062.1

p.T5002R

c.15005C>G

1 paper

NM_001394062.1

p.R4981R

c.14943G>T

1 paper

NM_001394062.1

p.A5147G

c.15440C>G

1 paper

NM_012090.5

p.E3098K

c.9292G>A

1 paper

NM_001394062.1

p.R5163W

c.15487C>T