Varaico: Literature-Extracted Genetic Variants

TYMP

378 papers

RefSeq Summary

This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acti...

Pfam Domains

Glycos_trans_3Naa 37–99UCSCGlycosyl transferase family, helical bundle domain

Glycos_transf_3aa 109–340UCSCGlycosyl transferase family, a/b domain

PYNP_Caa 388–462UCSCPyrimidine nucleoside phosphorylase C-terminal domain

Gene Aliases

HGNC Name

thymidine phosphorylase

HGNC Previous Symbols

MNGIE; ECGF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001953.5

p.A454P

c.1360G>C

Surrounding Variants

1 paper

NM_001953.5

p.L447_A454delFs

c.1340_1361del22

1 paper

NM_001953.5

p.L455P

c.1364T>C

4 papers

NM_001953.5

p.D443_G449delFs

c.1327_1346del20

1 paper

NM_001953.5

p.L447fs

c.1339_1340fs

2 papers

NM_001953.5

p.L461insFs

c.1382_1383insC

10 papers

NM_001953.5

p.A465T

c.1393G>A

1 paper

NM_001953.5

p.D443N

c.1327G>A

1 paper

NM_001953.5

p.D443fs

c.1327_1328fs

1 paper

NM_001953.5

p.F467L

c.1399T>C

1 paper

NM_001953.5

p.V440insFs

c.1319_1320insG

1 paper

NM_001953.5

p.V440A

c.1319T>C

2 papers

NM_001953.5

p.F467F

c.1401C>T