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

2 papers

NM_001017915.3

p.M1V

c.1A>G

Surrounding Variants

1 paper

NM_001017915.3

p.V2F

c.4G>T

1 paper

NM_001017915.3

p.W5*

c.14G>A

1 paper

NM_001017915.3

p.W5insFs

c.14_15insA

1 paper

NM_001017915.3

p.W5_N6insFs

c.15_16insA

1 paper

NM_001017915.3

p.G8D

c.23G>A

1 paper

NM_001017915.3

p.G8G

c.24C>T

1 paper

NM_001017915.3

p.K14_A15insA

c.40_44ins3

2 papers

NM_001017915.3

p.K14M

c.41A>T

1 paper

NM_001017915.3

p.A15V

c.44C>T

1 paper

NM_001017915.3

p.L18P

c.53T>C

1 paper

NM_001017915.3

p.L18R

c.53T>G

1 paper

NM_001017915.3

p.K24R

c.71A>G