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.F28Y

c.83T>A

Surrounding Variants

5 papers

NM_001017915.3

p.F28L

c.84C>A

5 papers

NM_001017915.3

p.F28L

c.84C>G

1 paper

NM_001017915.3

p.F28I

c.82T>A

5 papers

NM_001017915.3

p.F28L

c.82T>C

1 paper

NM_001017915.3

p.F28V

c.82T>G

2 papers

NM_001017915.3

p.L29F

c.85C>T

1 paper

NM_001017915.3

p.S27insFs

c.79_80insC

1 paper

NM_001017915.3

p.R31H

c.92G>A

1 paper

NM_001017915.3

p.K24R

c.71A>G

1 paper

NM_001017915.3

p.S33T

c.98G>C

1 paper

NM_001017915.3

p.I36V

c.106A>G

1 paper

NM_001017915.3

p.S37P

c.109T>C