Varaico: Literature-Extracted Genetic Variants

MUSK

286 papers

RefSeq Summary

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in t...

Pfam Domains

I-setaa 28–117UCSCImmunoglobulin I-set domain

I-setaa 121–208UCSCImmunoglobulin I-set domain

Ig_3aa 213–286UCSCImmunoglobulin domain

Fzaa 317–441UCSCFz domain

Gene Aliases

HGNC Name

muscle associated receptor tyrosine kinase

HGNC Previous Name

muscle, skeletal, receptor tyrosine kinase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005592.4

p.I66I

c.198T>A

Surrounding Variants

1 paper

NM_005592.4

p.I68S

c.203T>G

1 paper

NM_005592.4

p.E52D

c.156A>T

1 paper

NM_005592.4

p.C49S

c.145T>A

1 paper

NM_005592.4

p.M48R

c.143T>G

1 paper

NM_005592.4

p.A45V

c.134C>T

1 paper

NM_005592.4

p.V41_E42insFs

c.123_124insG

1 paper

NM_005592.4

p.A39A

c.117C>G

16 papers

NM_005592.4

p.D38E

c.114T>A

15 papers

NM_005592.4

p.D38E

c.114T>G

1 paper

NM_005592.4

p.D38Y

c.112G>T

1 paper

NM_005592.4

p.A27Splc

c.80-1G>A

2 papers

NM_005592.4

p.K69Splc

c.207-1G>T