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

1–12 of 184 variants

11 papers

NM_004998.4

p.A159P

c.475G>C

9 papers

NM_004998.4

p.Y695*

c.2085T>G

9 papers

NM_004998.4

p.Y695*

c.2085T>A

7 papers

NM_004998.4

p.I531M

c.1593C>G

6 papers

NM_004998.4

p.T119I

c.356C>T

6 papers

NM_004998.4

p.T876R

c.2627C>G

5 papers

NM_004998.4

p.Y47*

c.141C>G

5 papers

NM_004998.4

p.Y47*

c.141C>A

5 papers

NM_004998.4

p.K118E

c.352A>G

5 papers

NM_004998.4

p.D185G

c.554A>G

5 papers

NM_004998.4

p.R326W

c.976C>T

5 papers

NM_004998.4

p.T876R

c.2627C>G