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.S170T

c.508T>A

Surrounding Variants

3 papers

NM_013262.4

p.S167G

c.499A>G

1 paper

NM_013262.4

p.S167_Q168del1

c.500_502delGCC

1 paper

NM_013262.4

p.E164Q

c.490G>C

1 paper

NM_013262.4

p.I178_A181delins

c.533_542delinsC

1 paper

NM_013262.4

p.H160L

c.479A>T

1 paper

NM_013262.4

p.H160Y

c.478C>T

1 paper

NM_013262.4

p.Y185C

c.554A>G

1 paper

NM_013262.4

p.G186C

c.556G>T

1 paper

NM_013262.4

p.E188K

c.562G>A

1 paper

NM_013262.4

p.R193W

c.577C>T

1 paper

NM_013262.4

p.R193Q

c.578G>A

1 paper

NM_013262.4

p.D194G

c.581A>G