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.R129T

c.386G>C

Surrounding Variants

1 paper

NM_005541.5

p.V120M

c.358G>A

1 paper

NM_001017915.3

p.V120L

c.358G>C

1 paper

NM_001017915.3

p.S119R

c.357T>G

1 paper

NM_001017915.3

p.V117Splc

c.350-1G>A

1 paper

NM_001017915.3

p.S146insFs

c.436_437insAA

1 paper

NM_001017915.3

p.A152T

c.454G>A

1 paper

NM_001017915.3

p.S156N

c.467G>A

5 papers

NM_001017915.3

p.R157Q

c.470G>A

NM_005541.5

p.R156Q

c.467G>A

2 papers

NM_005541.5

p.T162P

c.484A>C

NM_001017915.3

p.T163P

c.487A>C

2 papers

NM_005541.5

p.T162T

c.486A>G

NM_001017915.3

p.T163T

c.489A>G

2 papers

NM_001017915.3

p.V117Splc

c.349+2T>G

1 paper

NM_001017915.3

p.T116K

c.347C>A