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

1–12 of 108 variants

9 papers

NM_182762.4

p.R804T

c.2411G>C

7 papers

NM_182762.4

p.S515L

c.1544C>T

5 papers

NM_182762.4

p.D428E

c.1284C>G

5 papers

NM_182762.4

p.D428E

c.1284C>A

3 papers

NM_182762.4

p.L31V

c.91C>G

3 papers

NM_182762.4

p.M480L

c.1438A>T

3 papers

NM_182762.4

p.V555A

c.1664T>C

2 papers

NM_182762.4

p.A151V

c.452C>T

2 papers

NM_182762.4

p.R186C

c.556C>T

2 papers

NM_182762.4

p.M305V

c.913A>G

2 papers

NM_182762.4

p.M480L

c.1438A>C

2 papers

NM_182762.4

p.G554W

c.1660G>T