Varaico: Literature-Extracted Genetic Variants

SH3BP4

62 papers

RefSeq Summary

This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-s...

Pfam Domains

SH3_1aa 61–106UCSCSH3 domain

ZU5aa 320–409UCSCZU5 domain

UPA_SH3BP4aa 470–614UCSCSH3BP4 UPA domain

SH3_2aa 658–722UCSCVariant SH3 domain

DEATH_SH3BP4aa 722–830UCSCSH3BP4, DEATH domain-like

SH3BP4_Caa 839–948UCSCSH3BP4 C-terminal helical domain

Gene Aliases

HGNC Name

SH3 domain binding protein 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014521.3

p.A45S

c.133G>T

Surrounding Variants

1 paper

NM_014521.3

p.P43H

c.128C>A

1 paper

NM_014521.3

p.N50K

c.150C>A

1 paper

NM_014521.3

p.N50K

c.150C>G

1 paper

NM_014521.3

p.N56S

c.167A>G

2 papers

NM_014521.3

p.Y66F

c.197A>T

1 paper

NM_014521.3

p.S77S

c.231C>T

1 paper

NM_014521.3

p.D80N

c.238G>A

1 paper

NM_014521.3

p.V84I

c.250G>A

1 paper

NM_014521.3

p.E100K

c.298G>A

2 papers

NM_014521.3

p.M155T

c.464T>C

1 paper

NM_014521.3

p.W162delFs

c.484delT

1 paper

NM_014521.3

p.V175M

c.523G>A