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.P1233L

c.3698C>T

Surrounding Variants

1 paper

NM_003898.4

p.R1229C

c.3685C>T

1 paper

NM_003898.4

p.A1223V

c.3668C>T

1 paper

NM_003898.4

p.V1261L

c.3781G>C

1 paper

NM_003898.4

p.S1271G

c.3811A>G

1 paper

NM_003898.4

p.P1284T

c.3850C>A

1 paper

NM_003898.4

p.P1284S

c.3850C>T

1 paper

NM_003898.4

p.P1284L

c.3851C>T

1 paper

NM_003898.4

p.P1333L

c.3998C>T

1 paper

NM_003898.4

p.A1374T

c.4120G>A

1 paper

NM_003898.4

p.T1428I

c.4283C>T

1 paper

NM_003898.4

p.L1430F

c.4288C>T

1 paper

NM_003898.4

p.R1181Q

c.3542G>A