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.T180S

c.539C>G

Surrounding Variants

2 papers

NM_001567.4

p.T180A

c.538A>G

1 paper

NM_001567.4

p.T180S

c.538A>T

1 paper

NM_001567.4

p.S179C

c.535A>T

5 papers

NM_001567.4

p.S182*

c.545C>A

1 paper

NM_001567.4

p.H183Y

c.547C>T

1 paper

NM_001567.4

p.G177E

c.530G>A

2 papers

NM_001567.4

p.S173Splc

c.519-3A>G

1 paper

NM_001567.4

p.D193N

c.577G>A

1 paper

NM_001567.4

p.H203P

c.608A>C

1 paper

NM_001567.4

p.R209C

c.625C>T

1 paper

NM_001567.4

p.A212T

c.634G>A

1 paper

NM_001567.4

p.T213A

c.637A>G