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.G795R

c.2383G>C

Surrounding Variants

2 papers

NM_004998.4

p.G795R

c.2383G>A

1 paper

NM_004998.4

p.K789E

c.2365A>G

1 paper

NM_004998.4

p.R782Q

c.2345G>A

1 paper

NM_004998.4

p.K778_G779Splc

c.2335-1G>A

1 paper

NM_004998.4

p.I818K

c.2453T>A

1 paper

NM_004998.4

p.V824M

c.2470G>A

1 paper

NM_004998.4

p.K778_G779Splc

c.2335-85G>A

1 paper

NM_004998.4

p.K778_G779Splc

c.2334+10A>G

1 paper

NM_004998.4

p.L754delFs

c.2260delG

1 paper

NM_004998.4

p.E753K

c.2257G>A

1 paper

NM_004998.4

p.E731D

c.2193G>T

1 paper

NM_004998.4

p.N728delFs

c.2184delG