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

4 papers

NM_001378122.1

p.M1I

c.3G>A

Surrounding Variants

2 papers

NM_001378122.1

p.M1I

c.3G>T

1 paper

NM_001378122.1

p.M1I

c.3G>C

1 paper

NM_001378122.1

p.A2S

c.4G>T

1 paper

NM_001378122.1

p.M1_A2delFs

c.1_4del4

1 paper

NM_001378122.1

p.A2A

c.6T>A

2 papers

NM_001378122.1

p.E3K

c.7G>A

1 paper

NM_001378122.1

p.G4G

c.12C>T

1 paper

NM_001378122.1

p.R5W

c.13C>T

1 paper

NM_001378122.1

p.R5G

c.13C>G

1 paper

NM_001378122.1

p.M1_G4del4

c.1_11del12

2 papers

NM_001378122.1

p.R5R

c.15G>T

1 paper

NM_001378122.1

p.R6_R7insFs

c.18_19insTT