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.F456L

c.1368C>G

Surrounding Variants

1 paper

NM_017857.4

p.F456L

c.1368C>A

1 paper

NM_017857.4

p.F456L

c.1366T>C

1 paper

NM_017857.4

p.N453K

c.1359C>A

1 paper

NM_017857.4

p.N453K

c.1359C>G

1 paper

NM_017857.4

p.R451H

c.1352G>A

1 paper

NM_017857.4

p.L446V

c.1336C>G

1 paper

NM_017857.4

p.E437*

c.1309G>T

1 paper

NM_017857.4

p.G416G

c.1248C>T

1 paper

NM_017857.4

p.G508W

c.1522G>T

1 paper

NM_017857.4

p.S518I

c.1553G>T

1 paper

NM_017857.4

p.E524G

c.1571A>G

1 paper

NM_017857.4

p.R529Q

c.1586G>A