Varaico: Literature-Extracted Genetic Variants

SSH2

58 papers

RefSeq Summary

This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament d...

Pfam Domains

PH_SSH1-like_1staa 103–252UCSCProtein phosphatase Slingshot homolog 1-like, PH domain-like

DEK_Caa 276–329UCSCDEK C terminal domain

DSPcaa 342–472UCSCDual specificity phosphatase, catalytic domain

Gene Aliases

HGNC Name

slingshot protein phosphatase 2

HGNC Alias Symbol

KIAA1725

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

3 papers

NM_001282129.2

p.S743L

c.2228C>T

2 papers

NM_001282129.2

p.V135L

c.403G>T

2 papers

NM_001282129.2

p.V135L

c.403G>C

2 papers

NM_001282129.2

p.S770L

c.2309C>T

1 paper

NM_001282129.2

p.V4delFs

c.11delA

1 paper

NM_001282129.2

p.E39K

c.115G>A

1 paper

NM_001282129.2

p.D46N

c.136G>A

1 paper

NM_001282129.2

p.P61P

c.183C>T

1 paper

NM_001282129.2

p.S63Splc

c.189-8C>T

1 paper

NM_001282129.2

p.R93W

c.277C>T

1 paper

NM_001282129.2

p.T139P

c.415A>C

1 paper

NM_001282129.2

p.S173R

c.517A>C