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

5 papers

NM_001567.4

p.W688C

c.2064G>T

Surrounding Variants

3 papers

NM_001567.4

p.W688C

c.2064G>C

4 papers

NM_001567.4

p.D690A

c.2069A>C

3 papers

NM_001567.4

p.R691W

c.2071C>T

3 papers

NM_001567.4

p.P686A

c.2056C>G

1 paper

NM_001567.4

p.C704Y

c.2111G>A

1 paper

NM_001567.4

p.S719Y

c.2156C>A

3 papers

NM_001567.4

p.V721M

c.2161G>A

1 paper

NM_001567.4

p.F722delFs

c.2164delT

2 papers

NM_001567.4

p.F722I

c.2164T>A

1 paper

NM_001567.4

p.F722fs

c.2164_2165fs

1 paper

NM_001567.4

p.E726V

c.2177A>T

1 paper

NM_001567.4

p.G680A

c.2039G>C