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

2 papers

NM_004998.4

p.F156insFs

c.467dupT

Surrounding Variants

1 paper

NM_004998.4

p.G157E

c.470G>A

1 paper

NM_004998.4

p.E154D

c.462G>T

1 paper

NM_004998.4

p.E154D

c.462G>C

11 papers

NM_004998.4

p.A159P

c.475G>C

1 paper

NM_004998.4

p.E154Q

c.460G>C

1 paper

NM_004998.4

p.Q148H

c.444G>T

1 paper

NM_004998.4

p.Q148H

c.444G>C

1 paper

NM_004998.4

p.N164K

c.492C>G

1 paper

NM_004998.4

p.N164K

c.492C>A

1 paper

NM_004998.4

p.S168N

c.503G>A

3 papers

NM_004998.4

p.R169*

c.505C>T

1 paper

NM_004998.4

p.V142M

c.424G>A