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.V560A

c.1679T>C

Surrounding Variants

1 paper

NM_182762.4

p.Q563E

c.1687C>G

1 paper

NM_182762.4

p.Q563L

c.1688A>T

3 papers

NM_182762.4

p.V555A

c.1664T>C

2 papers

NM_182762.4

p.G554W

c.1660G>T

1 paper

NM_182762.4

p.S551G

c.1651A>G

1 paper

NM_182762.4

p.Q544E

c.1630C>G

1 paper

NM_182762.4

p.K585_V586insFs

c.1755_1756ins4

1 paper

NM_182762.4

p.I589T

c.1766T>C

1 paper

NM_182762.4

p.L521M

c.1561T>A

7 papers

NM_182762.4

p.S515L

c.1544C>T

1 paper

NM_182762.4

p.S515W

c.1544C>G

1 paper

NM_182762.4

p.V609A

c.1826T>C