Varaico: Literature-Extracted Genetic Variants

MYO5B

325 papers

RefSeq Summary

The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by Re...

Pfam Domains

Myosin_headaa 71–749UCSCMyosin head (motor domain)

IQaa 765–785UCSCIQ calmodulin-binding motif

IQaa 788–808UCSCIQ calmodulin-binding motif

IQaa 813–833UCSCIQ calmodulin-binding motif

IQaa 836–856UCSCIQ calmodulin-binding motif

IQaa 861–881UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

myosin VB

HGNC Alias Symbol

KIAA1119

Papers

RefSeq ID

Protein change

DNA change

1–12 of 595 variants

32 papers

NM_001080467.3

p.P660L

c.1979C>T

13 papers

NM_001080467.3

p.R219H

c.656G>A

13 papers

NM_001080467.3

p.G441Splc

c.1323-2A>G

13 papers

NM_001080467.3

p.R824C

c.2470C>T

12 papers

NM_001080467.3

p.Q341*

c.1021C>T

11 papers

NM_001080467.3

p.R92C

c.274C>T

11 papers

NM_001080467.3

p.R656C

c.1966C>T

11 papers

NM_001080467.3

p.Q1456*

c.4366C>T

10 papers

NM_001080467.3

p.Q149*

c.445C>T

10 papers

NM_001080467.3

p.R1016*

c.3046C>T

10 papers

NM_001080467.3

p.R1795*

c.5383C>T

9 papers

NM_001080467.3

p.N456S

c.1367A>G