Varaico: Literature-Extracted Genetic Variants

SSH1

81 papers

RefSeq Summary

The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/...

Pfam Domains

PH_SSH1-like_1staa 77–226UCSCProtein phosphatase Slingshot homolog 1-like, PH domain-like

DEK_Caa 250–303UCSCDEK C terminal domain

DSPcaa 316–446UCSCDual specificity phosphatase, catalytic domain

Gene Aliases

HGNC Name

slingshot protein phosphatase 1

HGNC Alias Symbols

KIAA1298; SSH1L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 72 variants

6 papers

NM_018984.4

p.C393S

c.1177T>A

6 papers

NM_018984.4

p.C393S

c.1178G>C

4 papers

NM_018984.4

p.S63N

c.188G>A

2 papers

NM_018984.4

p.A19delFs

c.56_57delGG

2 papers

NM_018984.4

p.E29_E30delFs

c.85_88del4

2 papers

NM_018984.4

p.S56_S57del2

c.166_170del6

2 papers

NM_018984.4

p.L85_E88del4

c.253_263del12

2 papers

NM_018984.4

p.R144*

c.430C>T

2 papers

NM_018984.4

p.D485V

c.1454A>T

2 papers

NM_018984.4

p.E525*

c.1573G>T

2 papers

NM_018984.4

p.L541delFs

c.1622delA

2 papers

NM_018984.4

p.N621S

c.1862A>G