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.P1183L

c.3548C>T

Surrounding Variants

3 papers

NM_000260.4

p.P1183T

c.3547C>A

4 papers

NM_000260.4

p.N1182K

c.3546C>A

4 papers

NM_000260.4

p.N1182K

c.3546C>G

2 papers

NM_000260.4

p.S1184fs

c.3550_3551fs

2 papers

NM_000260.4

p.P1183delFs

c.3549delC

1 paper

NM_000260.4

p.S1187I

c.3560G>T

1 paper

NM_000260.4

p.L1179Q

c.3536T>A

1 paper

NM_000260.4

p.Q1178fs

c.3532_3533fs

2 papers

NM_000260.4

p.Y1188*

c.3564T>A

2 papers

NM_000260.4

p.Y1188*

c.3564T>G

1 paper

NM_000260.4

p.Y1188_R1190delins

c.3564_3570delinsA

2 papers

NM_000260.4

p.Y1188_G1191Fs

c.3564_3571delinsAFs