Varaico: Literature-Extracted Genetic Variants

SSH3

34 papers

RefSeq Summary

The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain...

Pfam Domains

PH_SSH1-like_1staa 97–248UCSCProtein phosphatase Slingshot homolog 1-like, PH domain-like

DEK_Caa 270–323UCSCDEK C terminal domain

DSPcaa 336–465UCSCDual specificity phosphatase, catalytic domain

Gene Aliases

HGNC Name

slingshot protein phosphatase 3

HGNC Alias Symbols

FLJ20515; FLJ10928

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017857.4

p.V45delFs

c.135delC

Surrounding Variants

1 paper

NM_017857.4

p.P69delFs

c.206delC

1 paper

NM_017857.4

p.Q78*

c.232C>T

1 paper

NM_017857.4

p.G82A

c.245G>C

1 paper

NM_017857.4

p.T184M

c.551C>T

1 paper

NM_017857.4

p.V206L

c.616G>C

1 paper

NM_017857.4

p.V206L

c.616G>T

1 paper

NM_017857.4

p.P221P

c.663G>A

1 paper

NM_017857.4

p.W228S

c.683G>C

1 paper

NM_017857.4

p.S238S

c.714C>T

1 paper

NM_017857.4

p.L255_A260delFs

c.765_778del14

1 paper

NM_017857.4

p.R256W

c.766C>T

1 paper

NM_017857.4

p.E261K

c.781G>A