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.R1159L

c.3476G>T

Surrounding Variants

9 papers

NM_001017915.3

p.Q1154L

c.3461A>T

NM_005541.5

p.Q1153L

c.3458A>T

1 paper

NM_001017915.3

p.P1168S

c.3502C>T

1 paper

NM_001017915.3

p.P1168P

c.3504G>A

3 papers

NM_001017915.3

p.H1169Y

c.3505C>T

NM_005541.5

p.H1168Y

c.3502C>T

1 paper

NM_001017915.3

p.A1149G

c.3446C>G

1 paper

NM_001017915.3

p.P1148R

c.3443C>G

1 paper

NM_001017915.3

p.R1174W

c.3520C>T

1 paper

NM_001017915.3

p.P1142S

c.3424C>T

1 paper

NM_001017915.3

p.P1134L

c.3401C>T

1 paper

NM_001017915.3

p.T1133I

c.3398C>T

1 paper

NM_001017915.3

p.A1118T

c.3352G>A

1 paper

NM_001017915.3

p.P1115_V1116ins0

c.3344_3346dupCGG