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_012090.5

p.L1171P

c.3512T>C

Surrounding Variants

1 paper

NM_001394062.1

p.I1161T

c.3482T>C

1 paper

NM_012090.5

p.E1184del1

c.3550_3551delGAA

1 paper

NM_001394062.1

p.V1154_L1166del13

c.3460_3497del39

1 paper

NM_001394062.1

p.D1184_L1185del1

c.3551_3553delATC

1 paper

NM_001394062.1

p.E1189_A1190del2

c.3565_3569del6

1 paper

NM_001394062.1

p.E1189_A1190del1

c.3567_3569delGGC

1 paper

NM_001394062.1

p.L1148V

c.3442C>G

1 paper

NM_001394062.1

p.V1140L

c.3418G>C

1 paper

NM_001394062.1

p.V1140F

c.3418G>T

1 paper

NM_001394062.1

p.L1199V

c.3595C>G

1 paper

NM_001394062.1

p.E1135Q

c.3403G>C

1 paper

NM_001394062.1

p.S1121P

c.3361T>C