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.P1204delFs

c.3612delC

Surrounding Variants

1 paper

NM_000260.4

p.P1204_S1205delFs

c.3612_3615del4

4 papers

NM_000260.4

p.P1204T

c.3610C>A

2 papers

NM_000260.4

p.P1204S

c.3610C>T

1 paper

NM_000260.4

p.C1201*

c.3603T>A

1 paper

NM_000260.4

p.C1201Y

c.3602G>A

9 papers

NM_000260.4

p.C1201S

c.3602G>C

1 paper

NM_000260.4

p.C1201F

c.3602G>T

9 papers

NM_000260.4

p.C1201S

c.3601T>A

2 papers

NM_000260.4

p.S1205fs

c.3613_3614fs

1 paper

NM_000260.4

p.C1201fs

c.3601_3602fs

1 paper

NM_000260.4

p.S1205S

c.3615C>T

2 papers

NM_000260.4

p.G1200C

c.3598G>T