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

2 papers

NM_006901.4

p.R1370W

c.4108C>T

Surrounding Variants

1 paper

NM_006901.4

p.P1365fs

c.4093_4094fs

1 paper

NM_006901.4

p.S1364_A1376delFs

c.4092_4126del35

1 paper

NM_006901.4

p.S1362P

c.4084T>C

1 paper

NM_006901.4

p.D1323H

c.3967G>C

1 paper

NM_006901.4

p.R1319Q

c.3956G>A

2 papers

NM_006901.4

p.Y1422fs

c.4264_4265fs

2 papers

NM_006901.4

p.Y1422delFs

c.4264delA

1 paper

NM_006901.4

p.S1294P

c.3880T>C

1 paper

NM_006901.4

p.R1293C

c.3877C>T

1 paper

NM_006901.4

p.E1279K

c.3835G>A

1 paper

NM_006901.4

p.R1269Q

c.3806G>A

1 paper

NM_006901.4

p.G1268G

c.3804C>A