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.G6765R

c.20293G>C

NM_012090.5

p.G4706R

c.14116G>C

Surrounding Variants

1 paper

NM_001394062.1

p.A6770V

c.20309C>T

1 paper

NM_001394062.1

p.L6857F

c.20569C>T

1 paper

NM_001394062.1

p.A6872V

c.20615C>T

1 paper

NM_001394062.1

p.G6897A

c.20690G>C

1 paper

NM_001394062.1

p.L6725P

c.20174T>C

1 paper

NM_001394062.1

p.D6686E

c.20058C>A

1 paper

NM_001394062.1

p.D6686E

c.20058C>G

1 paper

NM_012090.5

p.P4626T

c.13876C>A

1 paper

NM_012090.5

p.A4510T

c.13528G>A

1 paper

NM_001394062.1

p.Q6553*

c.19657C>T

2 papers

NM_012090.5

p.R4914C

c.14740C>T

NM_001394062.1

p.R6973C

c.20917C>T

1 paper

NM_012090.5

p.L4929M

c.14785C>A