Varaico: Literature-Extracted Genetic Variants

MACC1

103 papers

RefSeq Summary

MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, ang...

Pfam Domains

UPA_SH3BP4aa 366–510UCSCSH3BP4 UPA domain

DEATH_SH3BP4aa 617–723UCSCSH3BP4, DEATH domain-like

SH3BP4_Caa 732–841UCSCSH3BP4 C-terminal helical domain

Gene Aliases

HGNC Name

MET transcriptional regulator MACC1

HGNC Alias Symbols

7A5; SH3BP4L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182762.4

p.S266L

c.797C>T

Surrounding Variants

1 paper

NM_182762.4

p.P258A

c.772C>G

1 paper

NM_182762.4

p.G278S

c.832G>A

1 paper

NM_182762.4

p.A253P

c.757G>C

1 paper

NM_182762.4

p.E248fs

c.742_743fs

1 paper

NM_182762.4

p.E248delFs

c.742delC

1 paper

NM_182762.4

p.F246I

c.736T>A

1 paper

NM_182762.4

p.I232V

c.694A>G

1 paper

NM_182762.4

p.E229G

c.686A>G

2 papers

NM_182762.4

p.M305V

c.913A>G

1 paper

NM_182762.4

p.Q221P

c.662A>C

1 paper

NM_182762.4

p.E317*

c.949G>T

1 paper

NM_182762.4

p.V212V

c.636C>T