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

4 papers

NM_001567.4

p.G9fs

c.25_26fs

Surrounding Variants

1 paper

NM_001567.4

p.P8Fs

c.23delinsTTFs

3 papers

NM_001567.4

p.G12insFs

c.35dupG

1 paper

NM_001567.4

p.G12C

c.34G>T

2 papers

NM_001567.4

p.P8_A13delFs

c.24_39del16

1 paper

NM_001567.4

p.G12D

c.35G>A

3 papers

NM_001567.4

p.A13fs

c.37_38fs

2 papers

NM_001567.4

p.S3*

c.8C>A

3 papers

NM_001567.4

p.P19P

c.57C>T

1 paper

NM_001567.4

p.S20S

c.60C>G

2 papers

NM_001567.4

p.R24_G39del16

c.70_116del48

2 papers

NM_001567.4

p.E32_D41delFs

c.94_121del28

4 papers

NM_001567.4

p.E32fs

c.94_95fs