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

1–12 of 121 variants

17 papers

NM_024101.7

p.R35W

c.103C>T

12 papers

NM_024101.7

p.H347R

c.1040A>G

4 papers

NM_024101.7

p.R35Q

c.104G>A

4 papers

NM_024101.7

p.E98*

c.292G>T

4 papers

NM_024101.7

p.L153P

c.458T>C

4 papers

NM_024101.7

p.K235N

c.705G>C

3 papers

NM_024101.7

p.E14A

c.41A>C

3 papers

NM_024101.7

p.L28delFs

c.83delT

3 papers

NM_024101.7

p.E37Splc

c.111-5C>A

3 papers

NM_024101.7

p.Q72R

c.215A>G

3 papers

NM_024101.7

p.G172D

c.515G>A

3 papers

NM_024101.7

p.L227L

c.681C>T