Varaico: Literature-Extracted Genetic Variants

SYNJ2

130 papers

RefSeq Summary

The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded pr...

Pfam Domains

Syja_Naa 2–105UCSCSacI homology domain

Syja_Naa 61–342UCSCSacI homology domain

Exo_endo_phos2aa 535–861UCSCEndonuclease/Exonuclease/phosphatase family 2

DUF1866aa 863–1008UCSCDomain of unknown function (DUF1866)

Gene Aliases

HGNC Name

synaptojanin 2

HGNC Alias Symbol

INPP5H

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003898.4

p.K428Q

c.1282A>C

Surrounding Variants

1 paper

NM_003898.4

p.E425E

c.1275G>A

1 paper

NM_003898.4

p.V420I

c.1258G>A

1 paper

NM_003898.4

p.H436Q

c.1308C>A

1 paper

NM_003898.4

p.H436Q

c.1308C>G

1 paper

NM_003898.4

p.R466*

c.1396C>T

1 paper

NM_003898.4

p.R466Q

c.1397G>A

1 paper

NM_003898.4

p.S470Y

c.1409C>A

1 paper

NM_003898.4

p.D474N

c.1420G>A

1 paper

NM_003898.4

p.V486I

c.1456G>A

1 paper

NM_003898.4

p.V489F

c.1465G>T

1 paper

NM_003898.4

p.L507F

c.1519C>T

2 papers

NM_003898.4

p.E403D

c.1209G>C