Varaico: Literature-Extracted Genetic Variants

MLPH

137 papers

RefSeq Summary

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein...

Pfam Domains

FYVE_2aa 8–125UCSCFYVE-type zinc finger

Rab_eff_Caa 452–514UCSCRab effector MyRIP/melanophilin C-terminus

Gene Aliases

HGNC Name

melanophilin

HGNC Alias Symbols

l1Rk3; l(1)-3Rk; Slac-2a; ln; exophilin-3; SLAC2-A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_024101.7

p.L153P

c.458T>C

Surrounding Variants

1 paper

NM_024101.7

p.E156Q

c.466G>C

2 papers

NM_024101.7

p.G160R

c.478G>C

1 paper

NM_024101.7

p.D163N

c.487G>A

1 paper

NM_024101.7

p.Q164insFs

c.491dupA

1 paper

NM_024101.7

p.E170K

c.508G>A

3 papers

NM_024101.7

p.G172D

c.515G>A

1 paper

NM_024101.7

p.A175T

c.523G>A

1 paper

NM_024101.7

p.S191Y

c.572C>A

1 paper

NM_024101.7

p.E198K

c.592G>A

1 paper

NM_024101.7

p.H213Y

c.637C>T

1 paper

NM_024101.7

p.D222delFs

c.665delA

1 paper

NM_024101.7

p.D222fs

c.664_665fs