Varaico: Literature-Extracted Genetic Variants

MYO7B

146 papers

RefSeq Summary

The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskele...

Pfam Domains

Myosin_VII_Naa 5–59UCSCMyosin VII N-terminal beta barrel domain

Myosin_headaa 67–748UCSCMyosin head (motor domain)

IQaa 764–784UCSCIQ calmodulin-binding motif

IQaa 787–807UCSCIQ calmodulin-binding motif

IQaa 833–853UCSCIQ calmodulin-binding motif

IQaa 856–876UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

myosin VIIB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001393586.1

p.K400Q

c.1198A>C

Surrounding Variants

1 paper

NM_001393586.1

p.R378Q

c.1133G>A

1 paper

NM_001393586.1

p.H373Q

c.1119C>A

1 paper

NM_001393586.1

p.H373Q

c.1119C>G

1 paper

NM_001393586.1

p.R367Q

c.1100G>A

1 paper

NM_001393586.1

p.R367W

c.1099C>T

2 papers

NM_001393586.1

p.K413E

c.1237A>G

1 paper

NM_001393586.1

p.P421P

c.1263A>T

1 paper

NM_001393586.1

p.R431K

c.1292G>A

1 paper

NM_001393586.1

p.E442D

c.1326A>C

1 paper

NM_001393586.1

p.E442D

c.1326A>T

1 paper

NM_001393586.1

p.V355M

c.1063G>A

1 paper

NM_001393586.1

p.D345E

c.1035C>A