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

5 papers

NM_004998.4

p.Y47*

c.141C>G

Surrounding Variants

5 papers

NM_004998.4

p.Y47*

c.141C>A

1 paper

NM_004998.4

p.I48V

c.142A>G

1 paper

NM_004998.4

p.Y43N

c.127T>A

1 paper

NM_004998.4

p.V36M

c.106G>A

1 paper

NM_004998.4

p.K29E

c.85A>G

1 paper

NM_004998.4

p.D23delFs

c.69delG

1 paper

NM_004998.4

p.K17E

c.49A>G

1 paper

NM_004998.4

p.N15S

c.44A>G

1 paper

NM_004998.4

p.Q8Q

c.24G>A

1 paper

NM_004998.4

p.Y7C

c.20A>G

1 paper

NM_004998.4

p.G2R

c.4G>C

1 paper

NM_004998.4

p.M1_G2Splc

c.4-11T>C