Varaico: Literature-Extracted Genetic Variants

MYLIP

186 papers

RefSeq Summary

The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting pro...

Pfam Domains

FERM_Naa 5–68UCSCFERM N-terminal domain

FERM_Maa 82–190UCSCFERM central domain

FERM_Caa 194–282UCSCFERM C-terminal PH-like domain

zf-C3HC4_3aa 383–428UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

myosin regulatory light chain interacting protein

HGNC Alias Symbol

IDOL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013262.4

p.T271T

c.813G>A

Surrounding Variants

2 papers

NM_013262.4

p.A273E

c.818C>A

1 paper

NM_013262.4

p.R276K

c.827G>A

6 papers

NM_013262.4

p.R266*

c.796C>T

1 paper

NM_013262.4

p.Y265C

c.794A>G

1 paper

NM_013262.4

p.A260A

c.780G>A

1 paper

NM_013262.4

p.S257G

c.769A>G

1 paper

NM_013262.4

p.V250M

c.748G>A

1 paper

NM_013262.4

p.V250_L251insA

c.748_752ins3

1 paper

NM_013262.4

p.E244insFs

c.732dupA

2 papers

NM_013262.4

p.L239*

c.716T>A

1 paper

NM_013262.4

p.Y238_L239insG

c.712_716ins3

1 paper

NM_013262.4

p.V226M

c.676G>A