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

3 papers

NM_001953.5

p.W437*

c.1310G>A

Surrounding Variants

4 papers

NM_001953.5

p.W437*

c.1311G>A

1 paper

NM_001953.5

p.W437delFs

c.1311delC

1 paper

NM_001953.5

p.T435T

c.1305C>A

1 paper

NM_001953.5

p.R439H

c.1316G>A

1 paper

NM_001953.5

p.V440insFs

c.1319_1320insG

1 paper

NM_001953.5

p.V440A

c.1319T>C

1 paper

NM_001953.5

p.G434V

c.1301G>T

1 paper

NM_001953.5

p.G434Splc

c.1301-1G>C

3 papers

NM_001953.5

p.G434Splc

c.1301-1G>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.L447fs

c.1339_1340fs