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.R1861delFs

c.5581delC

Surrounding Variants

28 papers

NM_000260.4

p.R1861*

c.5581C>T

NM_001127180.2

p.R1823*

c.5467C>T

1 paper

NM_000260.4

p.R1861Q

c.5582G>A

21 papers

NM_000260.4

p.L1858P

c.5573T>C

1 paper

NM_000260.4

p.R1856H

c.5567G>A

1 paper

NM_000260.4

p.R1856delFs

c.5567delG

1 paper

NM_000260.4

p.R1856fs

c.5566_5567fs

1 paper

NM_000260.4

p.Q1855*

c.5563C>T

1 paper

NM_000260.4

p.Q1855fs

c.5563_5564fs

1 paper

NM_000260.4

p.V1854M

c.5560G>A

1 paper

NM_000260.4

p.V1854insFs

c.5561dupT

1 paper

NM_000260.4

p.R1856_Q1859del0

c.5566_5577del12

5 papers

NM_000260.4

p.L1866L

c.5598C>A