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.P429L

c.1286C>T

Surrounding Variants

1 paper

NM_024101.7

p.D428D

c.1284C>T

1 paper

NM_024101.7

p.A427delFs

c.1280delC

1 paper

NM_024101.7

p.S420L

c.1259C>T

1 paper

NM_024101.7

p.E414K

c.1240G>A

1 paper

NM_024101.7

p.E414Q

c.1240G>C

3 papers

NM_024101.7

p.A408S

c.1222G>T

1 paper

NM_024101.7

p.E407E

c.1221A>G

1 paper

NM_024101.7

p.S402L

c.1205C>T

1 paper

NM_024101.7

p.E391D

c.1173G>C

1 paper

NM_024101.7

p.E391D

c.1173G>T

1 paper

NM_024101.7

p.E391V

c.1172A>T

1 paper

NM_024101.7

p.E391K

c.1171G>A