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

1–12 of 128 variants

26 papers

NM_013262.4

p.N342S

c.1025A>G

8 papers

NM_013262.4

p.G51S

c.151G>A

6 papers

NM_013262.4

p.R266*

c.796C>T

5 papers

NM_013262.4

p.I202L

c.604A>C

3 papers

NM_013262.4

p.S167G

c.499A>G

2 papers

NM_013262.4

p.K20R

c.59A>G

2 papers

NM_013262.4

p.L239*

c.716T>A

2 papers

NM_013262.4

p.A273E

c.818C>A

2 papers

NM_013262.4

p.K293R

c.878A>G

2 papers

NM_013262.4

p.V339I

c.1015G>A

1 paper

NM_013262.4

p.M1V

c.1A>G

1 paper

NM_013262.4

p.M1K

c.2T>A