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

1–12 of 400 variants

29 papers

NM_001953.5

p.E289A

c.866A>C

27 papers

NM_001953.5

p.S471L

c.1412C>T

16 papers

NM_001953.5

p.G145R

c.433G>A

15 papers

NM_001953.5

p.V208M

c.622G>A

14 papers

NM_001953.5

p.G387Splc

c.1160-1G>A

13 papers

NM_001953.5

p.G145R

c.433G>C

13 papers

NM_001953.5

p.G412G

c.1236G>A

11 papers

NM_001953.5

p.R44Q

c.131G>A

11 papers

NM_001953.5

p.E87D

c.261G>T

11 papers

NM_001953.5

p.G153S

c.457G>A

10 papers

NM_001953.5

p.A465T

c.1393G>A

9 papers

NM_001953.5

p.E286K

c.856G>A