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.S2045F

c.6134C>T

Surrounding Variants

1 paper

NM_001394062.1

p.K2061delFs

c.6183delA

1 paper

NM_001394062.1

p.P2016H

c.6047C>A

1 paper

NM_001394062.1

p.Q1999E

c.5995C>G

1 paper

NM_001394062.1

p.Y1998D

c.5992T>G

1 paper

NM_001394062.1

p.E1997G

c.5990A>G

1 paper

NM_001394062.1

p.N2099S

c.6296A>G

2 papers

NM_001394062.1

p.Q2106*

c.6316C>T

1 paper

NM_001394062.1

p.I1973F

c.5917A>T

1 paper

NM_001394062.1

p.V2145insFs

c.6434dupT

1 paper

NM_001394062.1

p.M1929I

c.5787G>A

1 paper

NM_001394062.1

p.M1929I

c.5787G>C

1 paper

NM_001394062.1

p.M1929I

c.5787G>T