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

2 papers

NM_001953.5

p.H150fs

c.448_449fs

Surrounding Variants

1 paper

NM_001953.5

p.T151A

c.451A>G

4 papers

NM_001953.5

p.T151P

c.451A>C

1 paper

NM_001953.5

p.T151_G152insGCC

c.451_455ins9

3 papers

NM_001953.5

p.G149insFs

c.447dupG

1 paper

NM_001953.5

p.G152*

c.454G>T

1 paper

NM_001953.5

p.G152E

c.455G>A

1 paper

NM_001953.5

p.G149R

c.445G>A

2 papers

NM_001953.5

p.L148R

c.443T>G

1 paper

NM_001953.5

p.L148P

c.443T>C

11 papers

NM_001953.5

p.G153S

c.457G>A

1 paper

NM_001953.5

p.L148V

c.442C>G

1 paper

NM_001953.5

p.T154A

c.460A>G