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

Selected Variant

1 paper

NM_001282129.2

p.G881E

c.2642G>A

Surrounding Variants

1 paper

NM_033389.3

p.P863S

c.2587C>T

1 paper

NM_001282129.2

p.T916R

c.2747C>G

1 paper

NM_001282129.2

p.S921insFs

c.2761dupT

1 paper

NM_001282129.2

p.R923C

c.2767C>T

1 paper

NM_001282129.2

p.S941G

c.2821A>G

1 paper

NM_001282129.2

p.R819K

c.2456G>A

1 paper

NM_001282129.2

p.H813Y

c.2437C>T

1 paper

NM_001282129.2

p.A983V

c.2948C>T

1 paper

NM_001282129.2

p.I779L

c.2335A>C

2 papers

NM_001282129.2

p.S770L

c.2309C>T

1 paper

NM_001282129.2

p.D1002H

c.3004G>C

1 paper

NM_001282129.2

p.G1009A

c.3026G>C