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

6 papers

NM_000260.4

p.L1837H

c.5510T>A

Surrounding Variants

4 papers

NM_001127180.2

p.L1799P

c.5396T>C

NM_000260.4

p.L1837P

c.5510T>C

10 papers

NM_000260.4

p.L1836P

c.5507T>C

3 papers

NM_000260.4

p.L1836R

c.5507T>G

1 paper

NM_000260.4

p.L1839delFs

c.5515_5516delCT

1 paper

NM_000260.4

p.L1839fs

c.5515_5516fs

3 papers

NM_000260.4

p.L1839P

c.5516T>C

2 papers

NM_000260.4

p.E1835Q

c.5503G>C

1 paper

NM_000260.4

p.W1834*

c.5502G>A

1 paper

NM_000260.4

p.C1840R

c.5518T>C

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_L1836del3

c.5500_5507del9