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.K1361T

c.4082A>C

Surrounding Variants

1 paper

NM_001394062.1

p.P1363L

c.4088C>T

1 paper

NM_012090.5

p.S1363L

c.4088C>T

1 paper

NM_001394062.1

p.E1357K

c.4069G>A

2 papers

NM_001394062.1

p.L1349M

c.4045C>A

NM_012090.5

p.L1354M

c.4060C>A

1 paper

NM_001394062.1

p.L1347M

c.4039T>A

1 paper

NM_001394062.1

p.E1346V

c.4037A>T

1 paper

NM_001394062.1

p.M1381V

c.4141A>G

1 paper

NM_001394062.1

p.E1417del1

c.4249_4251delGAG

1 paper

NM_001394062.1

p.L1429_L1430del2

c.4285_4289del6

10 papers

NM_001394062.1

p.K1450N

c.4350A>T

1 paper

NM_001394062.1

p.E1468delFs

c.4403delA

1 paper

NM_001394062.1

p.V1342I

c.4024G>A