Varaico: Literature-Extracted Genetic Variants

MYO1E

160 papers

RefSeq Summary

This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motor...

Pfam Domains

Myosin_headaa 21–679UCSCMyosin head (motor domain)

Myosin_TH1aa 732–925UCSCUnconventional myosin tail, actin- and lipid-binding

SH3_1aa 1057–1102UCSCSH3 domain

Gene Aliases

HGNC Name

myosin IE

HGNC Alias Symbols

HuncM-IC; MGC104638

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004998.4

p.P184R

c.551C>G

Surrounding Variants

5 papers

NM_004998.4

p.D185G

c.554A>G

1 paper

NM_004998.4

p.S179R

c.537T>G

1 paper

NM_004998.4

p.S179R

c.537T>A

1 paper

NM_004998.4

p.S179R

c.535A>C

2 papers

NM_004998.4

p.V199L

c.595G>T

2 papers

NM_004998.4

p.V199L

c.595G>C

1 paper

NM_004998.4

p.V199insFs

c.596dupT

2 papers

NM_004998.4

p.R207Q

c.620G>A

1 paper

NM_004998.4

p.F170_G171Splc

c.511-181G>A

1 paper

NM_004998.4

p.G218S

c.652G>A

1 paper

NM_004998.4

p.Q223Q

c.669G>A

1 paper

NM_004998.4

p.L240F

c.718C>T