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.F766Y

c.2297T>A

Surrounding Variants

2 papers

NM_001567.4

p.E768_F769del2

c.2302_2306del6

1 paper

NM_001567.4

p.E754K

c.2260G>A

1 paper

NM_001567.4

p.E751Q

c.2251G>C

1 paper

NM_001567.4

p.Y747F

c.2240A>T

1 paper

NM_001567.4

p.K741E

c.2221A>G

1 paper

NM_001567.4

p.S740S

c.2220A>G

1 paper

NM_001567.4

p.S740*

c.2219C>A

1 paper

NM_001567.4

p.S740*

c.2219C>G

3 papers

NM_001567.4

p.E776Splc

c.2327-1G>C

1 paper

NM_001567.4

p.Y777N

c.2329T>A

2 papers

NM_001567.4

p.Y777*

c.2331C>A

3 papers

NM_001567.4

p.Y777*

c.2331C>G