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.L1878delFs

c.5632delC

Surrounding Variants

1 paper

NM_000260.4

p.A1877_L1878ins4

c.5629_5633ins12

1 paper

NM_000260.4

p.Q1875*

c.5623C>T

1 paper

NM_000260.4

p.R1879T

c.5636G>C

3 papers

NM_000260.4

p.R1879Splc

c.5636+1G>T

2 papers

NM_000260.4

p.R1873R

c.5619G>A

12 papers

NM_000260.4

p.R1873Q

c.5618G>A

21 papers

NM_000260.4

p.R1873W

c.5617C>T

1 paper

NM_000260.4

p.Q1872P

c.5615A>C

3 papers

NM_000260.4

p.R1879Splc

c.5636+7C>T

5 papers

NM_000260.4

p.L1866L

c.5598C>A

1 paper

NM_000260.4

p.R1861Q

c.5582G>A

28 papers

NM_000260.4

p.R1861*

c.5581C>T

NM_001127180.2

p.R1823*

c.5467C>T