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

1 paper

NM_024101.7

p.E14*

c.40G>T

Surrounding Variants

3 papers

NM_024101.7

p.E14A

c.41A>C

1 paper

NM_024101.7

p.H17insFs

c.50_51insC

1 paper

NM_024101.7

p.H17L

c.50A>T

2 papers

NM_024101.7

p.V18I

c.52G>A

1 paper

NM_024101.7

p.D6insFs

c.17_18insGC

1 paper

NM_024101.7

p.Q23K

c.67C>A

1 paper

NM_024101.7

p.L5V

c.13C>G

2 papers

NM_024101.7

p.R24*

c.70C>T

2 papers

NM_024101.7

p.R24Q

c.71G>A

1 paper

NM_024101.7

p.D25H

c.73G>C

1 paper

NM_024101.7

p.G2E

c.5G>A

1 paper

NM_024101.7

p.D27E

c.81C>A