Varaico: Literature-Extracted Genetic Variants

MKLN1

51 papers

RefSeq Summary

Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMe...

Pfam Domains

Muskelin_Naa 12–207UCSCMuskelin N-terminus

Beta-prop_ATRN-LZTR1aa 233–422UCSCAttractin/LZTR1 beta-propeller

Gene Aliases

HGNC Name

muskelin 1

HGNC Alias Symbol

TWA2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

4 papers

NM_013255.5

p.V134Splc

c.400+3A>C

2 papers

NM_013255.5

p.L196Q

c.587T>A

1 paper

NM_013255.5

p.A2V

c.5C>T

1 paper

NM_013255.5

p.A6D

c.17C>A

1 paper

NM_013255.5

p.L16F

c.46C>T

1 paper

NM_013255.5

p.E33Splc

c.99-14584A>T

1 paper

NM_013255.5

p.S44A

c.130T>G

1 paper

NM_013255.5

p.L62H

c.185T>A

1 paper

NM_013255.5

p.N94S

c.281A>G

1 paper

NM_013255.5

p.G105fs

c.313_314fs

1 paper

NM_013255.5

p.S138S

c.414C>G

1 paper

NM_013255.5

p.P158S

c.472C>T