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.H379D

c.1135C>G

Surrounding Variants

1 paper

NM_004998.4

p.H379Y

c.1135C>T

1 paper

NM_004998.4

p.M375V

c.1123A>G

1 paper

NM_004998.4

p.I384T

c.1151T>C

3 papers

NM_004998.4

p.D388H

c.1162G>C

1 paper

NM_004998.4

p.E393A

c.1178A>C

1 paper

NM_004998.4

p.E393_I394del1

c.1178_1180delTTT

1 paper

NM_004998.4

p.Q396_K397Splc

c.1188+146T>C

1 paper

NM_004998.4

p.F403L

c.1207T>C

1 paper

NM_004998.4

p.F403L

c.1209T>G

2 papers

NM_004998.4

p.F403L

c.1209T>A

1 paper

NM_004998.4

p.E410K

c.1228G>A

1 paper

NM_004998.4

p.V368I

c.1102G>A