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.S72F

c.215C>T

Surrounding Variants

1 paper

NM_182762.4

p.W68C

c.204G>T

1 paper

NM_182762.4

p.W68C

c.204G>C

1 paper

NM_182762.4

p.P76L

c.227C>T

1 paper

NM_182762.4

p.P66L

c.197C>T

1 paper

NM_182762.4

p.L84I

c.250C>A

1 paper

NM_182762.4

p.H47D

c.139C>G

1 paper

NM_182762.4

p.D44G

c.131A>G

1 paper

NM_182762.4

p.P43fs

c.127_128fs

1 paper

NM_182762.4

p.P43delFs

c.128delG

1 paper

NM_182762.4

p.R105*

c.313A>T

1 paper

NM_182762.4

p.C104insFs

c.312dupT

1 paper

NM_182762.4

p.G110E

c.329G>A