Varaico: Literature-Extracted Genetic Variants

INPP5D

227 papers

RefSeq Summary

This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interac...

Pfam Domains

SH2aa 5–86UCSCSH2 domain

C2_SHIP1-2_firstaa 296–375UCSCSHIP1/2 first C2 domain

Exo_endo_phos2aa 409–707UCSCEndonuclease/Exonuclease/phosphatase family 2

C2_SHIP1-2_2ndaa 745–850UCSCSHIP1/2 second C2 domain

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase D

HGNC Alias Symbols

SHIP; hp51CN; SHIP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001017915.3

p.D80insFs

c.238_239insG

Surrounding Variants

1 paper

NM_001017915.3

p.D80N

c.238G>A

1 paper

NM_001017915.3

p.D80insFs

c.239_240insG

1 paper

NM_001017915.3

p.K78R

c.233A>G

1 paper

NM_001017915.3

p.F76F

c.228C>T

1 paper

NM_001017915.3

p.E84insFs

c.250_251insA

1 paper

NM_001017915.3

p.M73I

c.219G>A

1 paper

NM_001017915.3

p.M73I

c.219G>C

1 paper

NM_001017915.3

p.M73I

c.219G>T

1 paper

NM_001017915.3

p.G70V

c.209G>T

1 paper

NM_001017915.3

p.P102L

c.305C>T

1 paper

NM_001017915.3

p.P112delFs

c.336delT

1 paper

NM_001017915.3

p.T116K

c.347C>A