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.A237fs

c.709_710fs

Surrounding Variants

4 papers

NM_024101.7

p.K235N

c.705G>C

1 paper

NM_024101.7

p.S231Y

c.692C>A

3 papers

NM_024101.7

p.L227L

c.681C>T

1 paper

NM_024101.7

p.T249I

c.746C>T

1 paper

NM_024101.7

p.S252S

c.756T>G

1 paper

NM_024101.7

p.C254R

c.760T>C

1 paper

NM_024101.7

p.P258T

c.772C>A

1 paper

NM_024101.7

p.A274S

c.820G>T

1 paper

NM_024101.7

p.A274G

c.821C>G

3 papers

NM_024101.7

p.P278S

c.832C>T

1 paper

NM_024101.7

p.R284G

c.850A>G

1 paper

NM_024101.7

p.T289I

c.866C>T