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

2 papers

NM_013262.4

p.V339I

c.1015G>A

Surrounding Variants

26 papers

NM_013262.4

p.N342S

c.1025A>G

1 paper

NM_013262.4

p.G334V

c.1001G>T

1 paper

NM_013262.4

p.A333T

c.997G>A

1 paper

NM_013262.4

p.A326D

c.977C>A

1 paper

NM_013262.4

p.S354L

c.1061C>T

1 paper

NM_013262.4

p.Y323H

c.967T>C

1 paper

NM_013262.4

p.K320R

c.959A>G

1 paper

NM_013262.4

p.K310R

c.929A>G

1 paper

NM_013262.4

p.C368R

c.1102T>C

1 paper

NM_013262.4

p.K309R

c.926A>G

1 paper

NM_013262.4

p.C368*

c.1104C>A

1 paper

NM_013262.4

p.R372Q

c.1115G>A