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.W795C

c.2385G>C

Surrounding Variants

1 paper

NM_182762.4

p.W795C

c.2385G>T

9 papers

NM_182762.4

p.R804T

c.2411G>C

1 paper

NM_182762.4

p.P820S

c.2458C>T

1 paper

NM_182762.4

p.E827*

c.2479G>T