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.I237K

c.710T>A

Surrounding Variants

1 paper

NM_001378122.1

p.P236L

c.707C>T

1 paper

NM_001378122.1

p.R239I

c.716G>T

1 paper

NM_001378122.1

p.R239R

c.717A>G

1 paper

NM_001378122.1

p.D240G

c.719A>G

1 paper

NM_001378122.1

p.L234F

c.700C>T

1 paper

NM_001378122.1

p.S241F

c.722C>T

1 paper

NM_001378122.1

p.S247G

c.739A>G

1 paper

NM_001378122.1

p.K227insFs

c.680_681insC

1 paper

NM_001378122.1

p.K227E

c.679A>G

1 paper

NM_001378122.1

p.R222I

c.665G>T

1 paper

NM_001378122.1

p.A254insFs

c.760_761insA

1 paper

NM_001378122.1

p.A254T

c.760G>A