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.P547S

c.1639C>T

Surrounding Variants

1 paper

NM_004998.4

p.P547L

c.1640C>T

1 paper

NM_004998.4

p.T560A

c.1678A>G

2 papers

NM_004998.4

p.G562R

c.1684G>C

2 papers

NM_004998.4

p.G562R

c.1684G>A

2 papers

NM_004998.4

p.L539Splc

c.1616+1G>C

1 paper

NM_004998.4

p.L539M

c.1615C>A

1 paper

NM_004998.4

p.E532K

c.1594G>A

7 papers

NM_004998.4

p.I531M

c.1593C>G

1 paper

NM_004998.4

p.R523W

c.1567C>T

1 paper

NM_004998.4

p.G490R

c.1468G>C

2 papers

NM_004998.4

p.G490R

c.1468G>A

1 paper

NM_004998.4

p.Q483Q

c.1449G>A