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.Y1828fs

c.5482_5483fs

Surrounding Variants

1 paper

NM_000260.4

p.Y1828_S1829delFs

c.5482_5485del4

3 papers

NM_000260.4

p.R1827Splc

c.5481-1G>C

1 paper

NM_000260.4

p.R1832R

c.5494C>A

2 papers

NM_000260.4

p.R1832W

c.5494C>T

1 paper

NM_000260.4

p.R1832Q

c.5495G>A

1 paper

NM_000260.4

p.G1833D

c.5498G>A

1 paper

NM_000260.4

p.G1833A

c.5498G>C

1 paper

NM_000260.4

p.W1834_L1836del3

c.5500_5507del9

1 paper

NM_000260.4

p.W1834*

c.5501G>A

1 paper

NM_000260.4

p.W1834S

c.5501G>C

1 paper

NM_000260.4

p.W1834*

c.5502G>A

2 papers

NM_000260.4

p.E1835Q

c.5503G>C