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.E640K

c.1918G>A

Surrounding Variants

1 paper

NM_001567.4

p.V634L

c.1900G>T

11 papers

NM_001567.4

p.L632I

c.1894C>A

2 papers

NM_001567.4

p.L631_L632delins

c.1893_1894delinsAA

1 paper

NM_001567.4

p.R649*

c.1945C>T

3 papers

NM_001567.4

p.S651Splc

c.1951+1G>A

1 paper

NM_001567.4

p.R625G

c.1873A>G

1 paper

NM_001567.4

p.E652delFs

c.1954delG

4 papers

NM_001567.4

p.E654del1

c.1960_1962delGAG

7 papers

NM_001567.4

p.P659S

c.1975C>T

7 papers

NM_001567.4

p.P659L

c.1976C>T

1 paper

NM_001567.4

p.R665W

c.1993C>T

1 paper

NM_001567.4

p.S667P

c.1999T>C