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

3 papers

NM_024101.7

p.Q72R

c.215A>G

Surrounding Variants

1 paper

NM_024101.7

p.Q72*

c.214C>T

1 paper

NM_024101.7

p.V75M

c.223G>A

1 paper

NM_024101.7

p.H63H

c.189C>T

1 paper

NM_024101.7

p.C84del1

c.250_251delTGT

1 paper

NM_024101.7

p.N60N

c.180C>T

1 paper

NM_024101.7

p.F87_H96del10

c.259_287del30

2 papers

NM_024101.7

p.T88A

c.262A>G

1 paper

NM_024101.7

p.T56A

c.166A>G

1 paper

NM_024101.7

p.C89Y

c.266G>A

2 papers

NM_024101.7

p.R50delins

c.149delinsC

1 paper

NM_024101.7

p.R50delFs

c.148delA

4 papers

NM_024101.7

p.E98*

c.292G>T