Varaico: Literature-Extracted Genetic Variants

GSN

494 papers

RefSeq Summary

The protein encoded by this gene binds to the 'plus' ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly ...

Pfam Domains

Gelsolinaa 41–124UCSCGelsolin repeat

Gelsolinaa 162–237UCSCGelsolin repeat

Gelsolinaa 278–356UCSCGelsolin repeat

Gelsolinaa 420–502UCSCGelsolin repeat

Gelsolinaa 540–608UCSCGelsolin repeat

Gelsolinaa 645–723UCSCGelsolin repeat

Gene Aliases

HGNC Name

gelsolin

HGNC Alias Symbol

DKFZp313L0718

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_198252.3

p.V30G

c.89T>G

Surrounding Variants

1 paper

NM_198252.3

p.V30A

c.89T>C

35 papers

NM_198252.3

p.V30M

c.88G>A

1 paper

NM_198252.3

p.V30V

c.90G>C

1 paper

NM_198252.3

p.V30L

c.88G>T

1 paper

NM_198252.3

p.P29P

c.87C>T

1 paper

NM_198252.3

p.P31S

c.91C>T

1 paper

NM_198252.3

p.P29L

c.86C>T

1 paper

NM_198252.3

p.T32S

c.94A>T

3 papers

NM_198252.3

p.V28M

c.82G>A

1 paper

NM_198252.3

p.N33I

c.98A>T

1 paper

NM_198252.3

p.L34V

c.100C>G

1 paper

NM_198252.3

p.F25L

c.75C>A