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.R581Q

c.1742G>A

Surrounding Variants

1 paper

NM_001567.4

p.R581W

c.1741C>T

1 paper

NM_001567.4

p.L580V

c.1738C>G

1 paper

NM_001567.4

p.D578G

c.1733A>G

1 paper

NM_001567.4

p.D587Y

c.1759G>T

1 paper

NM_001567.4

p.D594N

c.1780G>A

1 paper

NM_001567.4

p.D594D

c.1782C>T

1 paper

NM_001567.4

p.R598C

c.1792C>T

5 papers

NM_001567.4

p.D607A

c.1820A>C

1 paper

NM_001567.4

p.D613A

c.1838A>C

3 papers

NM_001567.4

p.D615insFs

c.1845dupT

1 paper

NM_001567.4

p.D615A

c.1844A>C

4 papers

NM_001567.4

p.I616fs

c.1846_1847fs