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

3 papers

NM_001378122.1

p.E210A

c.629A>C

Surrounding Variants

1 paper

NM_001378122.1

p.I208_S209insFs

c.623_626dup4

1 paper

NM_001378122.1

p.E211*

c.631G>T

1 paper

NM_001378122.1

p.E211A

c.632A>C

1 paper

NM_001378122.1

p.P212S

c.634C>T

1 paper

NM_001378122.1

p.C214insFs

c.641_642insT

1 paper

NM_001378122.1

p.P215S

c.643C>T

1 paper

NM_001378122.1

p.E216D

c.648A>T

1 paper

NM_001378122.1

p.E216D

c.648A>C

1 paper

NM_001378122.1

p.P202delFs

c.604delG

1 paper

NM_001378122.1

p.T198T

c.594A>T

1 paper

NM_001378122.1

p.R222I

c.665G>T

2 papers

NM_001378122.1

p.L196insFs

c.586_587insA