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.K410R

c.1229A>G

Surrounding Variants

1 paper

NM_182762.4

p.K410Q

c.1228A>C

1 paper

NM_182762.4

p.K407*

c.1219A>T

1 paper

NM_182762.4

p.L426I

c.1276T>A

5 papers

NM_182762.4

p.D428E

c.1284C>G

5 papers

NM_182762.4

p.D428E

c.1284C>A

1 paper

NM_182762.4

p.I437V

c.1309A>G

1 paper

NM_182762.4

p.P382L

c.1145C>T

1 paper

NM_182762.4

p.P382S

c.1144C>T

1 paper

NM_182762.4

p.S439insFs

c.1315dupT

1 paper

NM_182762.4

p.S439fs

c.1315_1316fs

1 paper

NM_182762.4

p.P442S

c.1324C>T

1 paper

NM_182762.4

p.D364Y

c.1090G>T