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

3 papers

NM_001282129.2

p.S743L

c.2228C>T

Surrounding Variants

1 paper

NM_033389.3

p.E678insFs

c.2033_2034insC

1 paper

NM_001282129.2

p.M703V

c.2107A>G

1 paper

NM_001282129.2

p.A682A

c.2046C>T

1 paper

NM_001282129.2

p.S670S

c.2010A>C

1 paper

NM_001282129.2

p.S670*

c.2009C>G

1 paper

NM_001282129.2

p.S670*

c.2009C>A

1 paper

NM_001282129.2

p.N634N

c.1902T>C

1 paper

NM_033389.3

p.K574_P583del0

c.1722_1748del27

1 paper

NM_001282129.2

p.K508R

c.1523A>G

1 paper

NM_001282129.2

p.I499V

c.1495A>G

2 papers

NM_001282129.2

p.S770L

c.2309C>T

1 paper

NM_001282129.2

p.I779L

c.2335A>C