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.F80L

c.238T>C

Surrounding Variants

1 paper

NM_013262.4

p.F80insFs

c.238_239insG

1 paper

NM_013262.4

p.F80insFs

c.239_240insG

1 paper

NM_013262.4

p.F80L

c.240C>G

1 paper

NM_013262.4

p.P84insFs

c.250_251insA

1 paper

NM_013262.4

p.L76F

c.226C>T

1 paper

NM_013262.4

p.P84insFs

c.251_252insA

1 paper

NM_013262.4

p.R73S

c.219G>C

1 paper

NM_013262.4

p.R73S

c.219G>T

1 paper

NM_013262.4

p.R73K

c.218G>A

1 paper

NM_013262.4

p.R73W

c.217A>T

1 paper

NM_013262.4

p.E90K

c.268G>A

1 paper

NM_013262.4

p.E90Q

c.268G>C