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.R817W

c.2449C>T

Surrounding Variants

1 paper

NM_014521.3

p.E816Q

c.2446G>C

1 paper

NM_014521.3

p.R797Q

c.2390G>A

1 paper

NM_014521.3

p.R797L

c.2390G>T

1 paper

NM_014521.3

p.D774E

c.2322C>A

1 paper

NM_014521.3

p.D774E

c.2322C>G

1 paper

NM_014521.3

p.R746W

c.2236C>T

1 paper

NM_014521.3

p.E734K

c.2200G>A

1 paper

NM_014521.3

p.P727T

c.2179C>A

1 paper

NM_014521.3

p.R724insFs

c.2170_2171ins10

1 paper

NM_014521.3

p.R724fs

c.2170_2171fs

1 paper

NM_014521.3

p.K700T

c.2099A>C

1 paper

NM_014521.3

p.R690L

c.2069G>T