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

2 papers

NM_000260.4

p.R1230C

c.3688C>T

Surrounding Variants

1 paper

NM_000260.4

p.R1230H

c.3689G>A

1 paper

NM_000260.4

p.R1232_F1235del4

c.3694_3704del12

1 paper

NM_000260.4

p.R1232fs

c.3694_3695fs

4 papers

NM_000260.4

p.R1232fs

c.3694_3695fs

10 papers

NM_000260.4

p.R1232_V1236delFs

c.3696_3706del11

1 paper

NM_000260.4

p.E1228K

c.3682G>A

1 paper

NM_000260.4

p.C1227S

c.3680G>C

1 paper

NM_000260.4

p.C1227S

c.3679T>A

1 paper

NM_000260.4

p.C1227R

c.3679T>C

6 papers

NM_000260.4

p.T1234S

c.3700A>T

1 paper

NM_000260.4

p.T1234delFs

c.3702delC

6 papers

NM_000260.4

p.T1234S

c.3701C>G