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.L14L

c.42A>C

Surrounding Variants

1 paper

NM_001378122.1

p.R15G

c.43C>G

1 paper

NM_001378122.1

p.R15insFs

c.43dupC

1 paper

NM_001378122.1

p.E13A

c.38A>C

1 paper

NM_001378122.1

p.E16E

c.48G>A

1 paper

NM_001378122.1

p.E12Q

c.34G>C

1 paper

NM_001378122.1

p.E12K

c.34G>A

1 paper

NM_001378122.1

p.E11E

c.33G>A

1 paper

NM_001378122.1

p.R17R

c.51C>A

1 paper

NM_001378122.1

p.R18L

c.53G>T

1 paper

NM_001378122.1

p.R18R

c.54C>T

1 paper

NM_001378122.1

p.E19E

c.57A>G

1 paper

NM_001378122.1

p.L20R

c.59T>G