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

17 papers

NM_024101.7

p.R35W

c.103C>T

Surrounding Variants

4 papers

NM_024101.7

p.R35Q

c.104G>A

1 paper

NM_024101.7

p.E32A

c.95A>C

1 paper

NM_024101.7

p.E32fs

c.94_95fs

1 paper

NM_024101.7

p.R29_E32delFs

c.87_96del10

1 paper

NM_024101.7

p.L28L

c.84C>A

3 papers

NM_024101.7

p.L28delFs

c.83delT

1 paper

NM_024101.7

p.L28fs

c.82_83fs

1 paper

NM_024101.7

p.D27E

c.81C>A

1 paper

NM_024101.7

p.D25H

c.73G>C

2 papers

NM_024101.7

p.R24Q

c.71G>A

2 papers

NM_024101.7

p.R24*

c.70C>T

1 paper

NM_024101.7

p.Q23K

c.67C>A