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

1–12 of 352 variants

11 papers

NM_001567.4

p.L632I

c.1894C>A

9 papers

NM_001567.4

p.A1083G

c.3248C>G

7 papers

NM_001567.4

p.P659S

c.1975C>T

7 papers

NM_001567.4

p.P659L

c.1976C>T

7 papers

NM_001567.4

p.N982S

c.2945A>G

5 papers

NM_001567.4

p.S182*

c.545C>A

5 papers

NM_001567.4

p.Q251H

c.753G>C

5 papers

NM_001567.4

p.D607A

c.1820A>C

5 papers

NM_001567.4

p.W688C

c.2064G>T

5 papers

NM_001567.4

p.T805_L806Splc

c.2415+1G>A

5 papers

NM_001567.4

p.R949*

c.2845C>T

4 papers

NM_001567.4

p.G9fs

c.25_26fs