Varaico: Literature-Extracted Genetic Variants

MYO9A

147 papers

RefSeq Summary

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosin...

Pfam Domains

RAaa 14–112UCSCRas association (RalGDS/AF-6) domain

Myosin_headaa 148–698UCSCMyosin head (motor domain)

Myosin_headaa 819–1004UCSCMyosin head (motor domain)

IQaa 1043–1063UCSCIQ calmodulin-binding motif

IQaa 1075–1095UCSCIQ calmodulin-binding motif

IQaa 1116–1136UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

myosin IXA

HGNC Alias Symbols

FLJ11061; FLJ13244; MGC71859

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006901.4

p.M1512T

c.4535T>C

Surrounding Variants

1 paper

NM_006901.4

p.R1517C

c.4549C>T

7 papers

NM_006901.4

p.R1517H

c.4550G>A

1 paper

NM_006901.4

p.R1500K

c.4499G>A

1 paper

NM_006901.4

p.L1493L

c.4479A>G

1 paper

NM_006901.4

p.E1555D

c.4665G>T

1 paper

NM_006901.4

p.E1555D

c.4665G>C

1 paper

NM_006901.4

p.P1595insFs

c.4783_4784insA

1 paper

NM_006901.4

p.P1595fs

c.4783_4784fs

1 paper

NM_006901.4

p.P1596delFs

c.4787delG

2 papers

NM_006901.4

p.Y1422delFs

c.4264delA

2 papers

NM_006901.4

p.Y1422fs

c.4264_4265fs

1 paper

NM_006901.4

p.V1603M

c.4807G>A