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.W747*

c.2240G>A

Surrounding Variants

1 paper

NM_003898.4

p.Q745*

c.2233C>T

1 paper

NM_003898.4

p.R744C

c.2230C>T

1 paper

NM_003898.4

p.V742I

c.2224G>A

1 paper

NM_003898.4

p.S762delFs

c.2285_2286delGT

1 paper

NM_003898.4

p.G725insFs

c.2174dupG

1 paper

NM_003898.4

p.S717F

c.2150C>T

1 paper

NM_003898.4

p.G712R

c.2134G>A

1 paper

NM_003898.4

p.D783N

c.2347G>A

1 paper

NM_003898.4

p.A787T

c.2359G>A

1 paper

NM_003898.4

p.T797P

c.2389A>C

1 paper

NM_003898.4

p.A799V

c.2396C>T

1 paper

NM_003898.4

p.A799A

c.2397C>T