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.D1274H

c.3820G>C

Surrounding Variants

1 paper

NM_001394062.1

p.E1264K

c.3790G>A

1 paper

NM_001394062.1

p.E1294K

c.3880G>A

1 paper

NM_001394062.1

p.T1315A

c.3943A>G

1 paper

NM_001394062.1

p.E1249*

c.3745G>T

1 paper

NM_001394062.1

p.Q1248L

c.3743A>T

1 paper

NM_001394062.1

p.G1244V

c.3731G>T

1 paper

NM_001394062.1

p.R1233Q

c.3698G>A

1 paper

NM_012090.5

p.R1233H

c.3698G>A

1 paper

NM_001394062.1

p.V1342I

c.4024G>A

1 paper

NM_001394062.1

p.L1199V

c.3595C>G

1 paper

NM_001394062.1

p.E1189_A1190del1

c.3567_3569delGGC

1 paper

NM_001394062.1

p.E1189_A1190del2

c.3565_3569del6