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

2 papers

NM_001567.4

p.F921L

c.2761T>C

Surrounding Variants

2 papers

NM_001567.4

p.F921L

c.2763C>A

2 papers

NM_001567.4

p.F921L

c.2763C>G

1 paper

NM_001567.4

p.A920T

c.2758G>A

1 paper

NM_001567.4

p.R917H

c.2750G>A

1 paper

NM_001567.4

p.C926Y

c.2777G>A

1 paper

NM_001567.4

p.S914*

c.2741C>A

1 paper

NM_001567.4

p.S914*

c.2741C>G

1 paper

NM_001567.4

p.L931_P935del0

c.2791_2805del15

1 paper

NM_001567.4

p.E934K

c.2800G>A

1 paper

NM_001567.4

p.P940L

c.2819C>T

1 paper

NM_001567.4

p.P947S

c.2839C>T

5 papers

NM_001567.4

p.R949*

c.2845C>T