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_033389.3

p.F1292L

c.3876C>G

Surrounding Variants

1 paper

NM_033389.3

p.P1314_H1315delins

c.3942_3943delinsAA

1 paper

NM_001282129.2

p.V1351A

c.4052T>C

1 paper

NM_001282129.2

p.R1283L

c.3848G>T

1 paper

NM_001282129.2

p.S1279S

c.3837C>G

1 paper

NM_001282129.2

p.R1268Q

c.3803G>A

1 paper

NM_001282129.2

p.R1261H

c.3782G>A

1 paper

NM_001282129.2

p.L1390F

c.4168C>T

1 paper

NM_001282129.2

p.I1248fs

c.3742_3743fs

1 paper

NM_001282129.2

p.I1248delFs

c.3743delA

1 paper

NM_033389.3

p.I1221R

c.3662T>G

1 paper

NM_001282129.2

p.E1246*

c.3736G>T

1 paper

NM_001282129.2

p.G1398S

c.4192G>A