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.S336S

c.1008C>T

Surrounding Variants

1 paper

NM_004998.4

p.L343L

c.1029C>A

1 paper

NM_004998.4

p.V345I

c.1033G>A

1 paper

NM_004998.4

p.E346Q

c.1036G>C

5 papers

NM_004998.4

p.R326W

c.976C>T

1 paper

NM_004998.4

p.L323P

c.968T>C

1 paper

NM_004998.4

p.D353N

c.1057G>A

1 paper

NM_004998.4

p.L312V

c.934C>G

1 paper

NM_004998.4

p.F307L

c.921T>G

1 paper

NM_004998.4

p.F307L

c.921T>A

1 paper

NM_004998.4

p.F307L

c.919T>C

1 paper

NM_004998.4

p.V368I

c.1102G>A

1 paper

NM_004998.4

p.M375V

c.1123A>G