Varaico: Literature-Extracted Genetic Variants

MYO7A

1,075 papers

RefSeq Summary

This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other ...

Pfam Domains

Myosin_VII_Naa 5–59UCSCMyosin VII N-terminal beta barrel domain

Myosin_headaa 67–729UCSCMyosin head (motor domain)

IQaa 768–788UCSCIQ calmodulin-binding motif

IQaa 814–834UCSCIQ calmodulin-binding motif

MyTH4aa 1154–1251UCSCMyTH4 domain

RA_2aa 1256–1350UCSCRA like domain

Gene Aliases

HGNC Name

myosin VIIA

HGNC Previous Symbols

USH1B; DFNB2; DFNA11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000260.4

p.Q2017_E2018Splc

c.6051+29C>A

Surrounding Variants

2 papers

NM_000260.4

p.Q2017_E2018Splc

c.6051+17T>A

1 paper

NM_000260.4

p.Q2017_E2018Splc

c.6051+16C>G

1 paper

NM_000260.4

p.Q2017_E2018Splc

c.6051+9C>T

1 paper

NM_000260.4

p.Q2017_E2018Splc

c.6051+2T>C

2 papers

NM_000260.4

p.Q2017_E2018Splc

c.6051+1G>A

1 paper

NM_000260.4

p.Q2017H

c.6051G>C

1 paper

NM_000260.4

p.Q2017H

c.6051G>T

1 paper

NM_000260.4

p.Q2017*

c.6049C>T

1 paper

NM_000260.4

p.Y2016_Q2017insFs

c.6047_6050dup4

4 papers

NM_000260.4

p.Y2015H

c.6043T>C

1 paper

NM_000260.4

p.H2014Q

c.6042C>A

1 paper

NM_000260.4

p.H2014Q

c.6042C>G