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.C391Y

c.1172G>A

Surrounding Variants

1 paper

NM_013262.4

p.C391*

c.1173C>A

1 paper

NM_013262.4

p.E392G

c.1175A>G

1 paper

NM_013262.4

p.V389M

c.1165G>A

1 paper

NM_013262.4

p.V389L

c.1165G>C

1 paper

NM_013262.4

p.F399L

c.1195T>C

1 paper

NM_013262.4

p.P401S

c.1201C>T

1 paper

NM_013262.4

p.H404Y

c.1210C>T

1 paper

NM_013262.4

p.V406M

c.1216G>A

1 paper

NM_013262.4

p.R372Q

c.1115G>A

1 paper

NM_013262.4

p.A412T

c.1234G>A

1 paper

NM_013262.4

p.C368*

c.1104C>A

1 paper

NM_013262.4

p.C368R

c.1102T>C