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.G39delFs

c.115delG

Surrounding Variants

1 paper

NM_001567.4

p.R37W

c.109C>T

2 papers

NM_001567.4

p.D41Y

c.121G>T

4 papers

NM_001567.4

p.E32fs

c.94_95fs

2 papers

NM_001567.4

p.R47G

c.139C>G

2 papers

NM_001567.4

p.E32_D41delFs

c.94_121del28

1 paper

NM_001567.4

p.R47Q

c.140G>A

2 papers

NM_001567.4

p.S49R

c.145A>C

2 papers

NM_001567.4

p.S49R

c.147C>A

2 papers

NM_001567.4

p.S49R

c.147C>G

1 paper

NM_001567.4

p.E50Q

c.148G>C

1 paper

NM_001567.4

p.V52L

c.154G>C

1 paper

NM_001567.4

p.V52L

c.154G>T