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

1–12 of 164 variants

8 papers

NM_001017915.3

p.Q1154L

c.3461A>T

5 papers

NM_001017915.3

p.F28L

c.82T>C

5 papers

NM_001017915.3

p.F28L

c.84C>A

5 papers

NM_001017915.3

p.F28L

c.84C>G

4 papers

NM_001017915.3

p.R157Q

c.470G>A

3 papers

NM_001017915.3

p.A193T

c.577G>A

2 papers

NM_001017915.3

p.M1V

c.1A>G

2 papers

NM_001017915.3

p.K14M

c.41A>T

2 papers

NM_001017915.3

p.L29F

c.85C>T

2 papers

NM_001017915.3

p.A41T

c.121G>A

2 papers

NM_001017915.3

p.V117Splc

c.349+2T>G

2 papers

NM_001017915.3

p.K210R

c.629A>G