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.K978N

c.2934G>C

Surrounding Variants

2 papers

NM_001567.4

p.K978N

c.2934G>T

1 paper

NM_001567.4

p.P977fs

c.2929_2930fs

2 papers

NM_001567.4

p.P976fs

c.2926_2927fs

2 papers

NM_001567.4

p.P976fs

c.2926_2927fs

7 papers

NM_001567.4

p.N982S

c.2945A>G

1 paper

NM_001567.4

p.A974V

c.2921C>T

1 paper

NM_001567.4

p.P975insFs

c.2925dupC

1 paper

NM_001567.4

p.A974insFs

c.2920_2921insCC

1 paper

NM_001567.4

p.A974fs

c.2920_2921fs

1 paper

NM_001567.4

p.P976delFs

c.2927delC

1 paper

NM_001567.4

p.A973V

c.2918C>T

1 paper

NM_001567.4

p.V972G

c.2915T>G