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

1–12 of 302 variants

6 papers

NM_001378122.1

p.Q554R

c.1661A>G

4 papers

NM_001378122.1

p.M1I

c.3G>A

4 papers

NM_001378122.1

p.D171N

c.511G>A

3 papers

NM_001378122.1

p.P45insFs

c.134_135insC

3 papers

NM_001378122.1

p.S56insFs

c.167_168insT

3 papers

NM_001378122.1

p.S65Splc

c.193+1G>A

3 papers

NM_001378122.1

p.L91P

c.272T>C

3 papers

NM_001378122.1

p.R92S

c.276G>T

3 papers

NM_001378122.1

p.E125_L126Splc

c.375+1G>A

3 papers

NM_001378122.1

p.E210A

c.629A>C

2 papers

NM_001378122.1

p.M1I

c.3G>T

2 papers

NM_001378122.1

p.E3K

c.7G>A