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.E630D

c.1890A>T

Surrounding Variants

1 paper

NM_014521.3

p.E630D

c.1890A>C

1 paper

NM_014521.3

p.N629N

c.1887C>T

1 paper

NM_014521.3

p.R624K

c.1871G>A

1 paper

NM_014521.3

p.R651H

c.1952G>A

1 paper

NM_014521.3

p.P652P

c.1956G>A

1 paper

NM_014521.3

p.T608I

c.1823C>T

1 paper

NM_014521.3

p.A599T

c.1795G>A

1 paper

NM_014521.3

p.D586H

c.1756G>C

1 paper

NM_014521.3

p.E676Q

c.2026G>C

1 paper

NM_014521.3

p.P581S

c.1741C>T

1 paper

NM_014521.3

p.Q579H

c.1737G>C

1 paper

NM_014521.3

p.Q579H

c.1737G>T