Varaico: Literature-Extracted Genetic Variants

INPPL1

254 papers

RefSeq Summary

The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epiderm...

Pfam Domains

SH2aa 21–102UCSCSH2 domain

C2_SHIP1-2_firstaa 307–395UCSCSHIP1/2 first C2 domain

C2_SHIP1-2_2ndaa 762–869UCSCSHIP1/2 second C2 domain

SAM_1aa 1199–1258UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

inositol polyphosphate phosphatase like 1

HGNC Alias Symbol

SHIP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001567.4

p.E652delFs

c.1954delG

Surrounding Variants

4 papers

NM_001567.4

p.E654del1

c.1960_1962delGAG

7 papers

NM_001567.4

p.P659S

c.1975C>T

7 papers

NM_001567.4

p.P659L

c.1976C>T

1 paper

NM_001567.4

p.R665W

c.1993C>T

1 paper

NM_001567.4

p.S667P

c.1999T>C

1 paper

NM_001567.4

p.R668Q

c.2003G>A

1 paper

NM_001567.4

p.R668P

c.2003G>C

1 paper

NM_001567.4

p.T670_Y671del2

c.2008_2012del6

1 paper

NM_001567.4

p.G680A

c.2039G>C

3 papers

NM_001567.4

p.S651Splc

c.1951+1G>A

1 paper

NM_001567.4

p.R649*

c.1945C>T

1 paper

NM_001567.4

p.E640K

c.1918G>A