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.E14_V15insA

c.40_44ins3

Surrounding Variants

1 paper

NM_013262.4

p.M13I

c.39G>T

1 paper

NM_013262.4

p.L12Q

c.35T>A

1 paper

NM_013262.4

p.V17A

c.50T>C

1 paper

NM_013262.4

p.A10E

c.29C>A

1 paper

NM_013262.4

p.E18K

c.52G>A

2 papers

NM_013262.4

p.K20R

c.59A>G

1 paper

NM_013262.4

p.A21V

c.62C>T

1 paper

NM_013262.4

p.V5_T6insFs

c.15_16insA

1 paper

NM_013262.4

p.V5insFs

c.14_15insA

1 paper

NM_013262.4

p.C3C

c.9T>C

1 paper

NM_013262.4

p.M1K

c.2T>A

1 paper

NM_013262.4

p.M1T

c.2T>C