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.S49R

c.145A>C

Surrounding Variants

1 paper

NM_013262.4

p.S49R

c.147C>A

1 paper

NM_013262.4

p.S49R

c.147C>G

8 papers

NM_013262.4

p.G51S

c.151G>A

1 paper

NM_013262.4

p.F46S

c.137T>C

1 paper

NM_013262.4

p.W55R

c.163T>A

1 paper

NM_013262.4

p.F42F

c.126T>C

1 paper

NM_013262.4

p.N60D

c.178A>G

1 paper

NM_013262.4

p.G35E

c.104G>A

1 paper

NM_013262.4

p.S63S

c.189C>A

1 paper

NM_013262.4

p.C31Y

c.92G>A

1 paper

NM_013262.4

p.D67N

c.199G>A

1 paper

NM_013262.4

p.G68R

c.202G>A