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.P1243insFs

c.3728dupC

Surrounding Variants

1 paper

NM_000260.4

p.Q1242E

c.3724C>G

1 paper

NM_000260.4

p.P1243R

c.3728C>G

5 papers

NM_000260.4

p.P1243L

c.3728C>T

4 papers

NM_000260.4

p.Q1242*

c.3724C>T

1 paper

NM_000260.4

p.P1244fs

c.3730_3731fs

7 papers

NM_000260.4

p.P1244R

c.3731C>G

50 papers

NM_000260.4

p.R1240Q

c.3719G>A

12 papers

NM_000260.4

p.R1240W

c.3718C>T

1 paper

NM_000260.4

p.S1245S

c.3735C>T

1 paper

NM_000260.4

p.T1239insFs

c.3715_3716insC

1 paper

NM_000260.4

p.T1239fs

c.3715_3716fs

1 paper

NM_000260.4

p.G1238_P1243delFs

c.3714_3729del16