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.Q1250_A1251Splc

c.3750+9G>A

Surrounding Variants

1 paper

NM_000260.4

p.Q1250_A1251Splc

c.3750+7G>A

1 paper

NM_000260.4

p.Q1250_A1251Splc

c.3750+5G>A

1 paper

NM_000260.4

p.Q1250_A1251Splc

c.3750+5G>T

1 paper

NM_000260.4

p.Q1250_A1251Splc

c.3750+4C>T

3 papers

NM_000260.4

p.Q1250_A1251Splc

c.3750+2T>A

1 paper

NM_000260.4

p.Q1250R

c.3749A>G

1 paper

NM_000260.4

p.L1249P

c.3746T>C

1 paper

NM_000260.4

p.L1249delFs

c.3747delG

1 paper

NM_000260.4

p.E1248K

c.3742G>A

1 paper

NM_000260.4

p.S1245S

c.3735C>T

7 papers

NM_000260.4

p.P1244R

c.3731C>G

1 paper

NM_000260.4

p.P1244fs

c.3730_3731fs