Varaico: Literature-Extracted Genetic Variants

SH3D19

661 papers

RefSeq Summary

This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppressio...

Pfam Domains

SH3_2aa 419–472UCSCVariant SH3 domain

SH3_1aa 501–546UCSCSH3 domain

SH3_1aa 577–622UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 domain containing 19

HGNC Alias Symbols

DKFZp434D0215; EVE1; Kryn; SH3P19; Eve-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378122.1

p.V299insFs

c.896_897insC

Surrounding Variants

1 paper

NM_001378122.1

p.S292_R296del5

c.874_887del15

1 paper

NM_001378122.1

p.G302S

c.904G>A

1 paper

NM_001378122.1

p.I293insFs

c.878dupT

1 paper

NM_001378122.1

p.N291S

c.872A>G

1 paper

NM_001378122.1

p.T308S

c.922A>T

1 paper

NM_001378122.1

p.T308S

c.923C>G

1 paper

NM_001378122.1

p.S289R

c.867C>A

1 paper

NM_001378122.1

p.S289C

c.865A>T

1 paper

NM_001378122.1

p.G310V

c.929G>T

2 papers

NM_001378122.1

p.G310E

c.929G>A

2 papers

NM_001378122.1

p.G310G

c.930A>G

1 paper

NM_001378122.1

p.E287D

c.861A>C