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.S373N

c.1118G>A

Surrounding Variants

1 paper

NM_014521.3

p.P363L

c.1088C>T

1 paper

NM_014521.3

p.E350K

c.1048G>A

1 paper

NM_014521.3

p.E350Q

c.1048G>C

1 paper

NM_014521.3

p.A347V

c.1040C>T

1 paper

NM_014521.3

p.V330A

c.989T>C

1 paper

NM_014521.3

p.N431S

c.1292A>G

1 paper

NM_014521.3

p.V315M

c.943G>A

1 paper

NM_014521.3

p.V438I

c.1312G>A

1 paper

NM_014521.3

p.Q439R

c.1316A>G

1 paper

NM_014521.3

p.P307L

c.920C>T

1 paper

NM_014521.3

p.D299N

c.895G>A

1 paper

NM_014521.3

p.R295Q

c.884G>A