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.Q499K

c.1495C>A

Surrounding Variants

1 paper

NM_182762.4

p.A498P

c.1492G>C

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.E479_M480del2

c.1435_1439del6

3 papers

NM_182762.4

p.M480L

c.1438A>T

2 papers

NM_182762.4

p.M480L

c.1438A>C

1 paper

NM_182762.4

p.E479D

c.1437G>T

1 paper

NM_182762.4

p.E479D

c.1437G>C

1 paper

NM_182762.4

p.H477_R478delFs

c.1431_1432delTG

1 paper

NM_182762.4

p.L521M

c.1561T>A

1 paper

NM_182762.4

p.H477fs

c.1429_1430fs

1 paper

NM_182762.4

p.H467Y

c.1399C>T