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.E352E

c.1056A>G

Surrounding Variants

12 papers

NM_024101.7

p.H347R

c.1040A>G

1 paper

NM_024101.7

p.H347Y

c.1039C>T

1 paper

NM_024101.7

p.V362I

c.1084G>A

2 papers

NM_024101.7

p.L366_K368del0

c.1096_1104del9

3 papers

NM_024101.7

p.V374A

c.1121T>C

1 paper

NM_024101.7

p.V380L

c.1138G>T

1 paper

NM_024101.7

p.E381A

c.1142A>C

1 paper

NM_024101.7

p.E382A

c.1145A>C

1 paper

NM_024101.7

p.E391K

c.1171G>A

1 paper

NM_024101.7

p.E391V

c.1172A>T

1 paper

NM_024101.7

p.E391D

c.1173G>C

1 paper

NM_024101.7

p.E391D

c.1173G>T