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.E289K

c.865G>A

Surrounding Variants

1 paper

NM_001953.5

p.E289Q

c.865G>C

2 papers

NM_001953.5

p.E289G

c.866A>G

29 papers

NM_001953.5

p.E289A

c.866A>C

1 paper

NM_001953.5

p.A290insFs

c.868_869insT

1 paper

NM_001953.5

p.A290V

c.869C>T

9 papers

NM_001953.5

p.E286K

c.856G>A

7 papers

NM_001953.5

p.L285P

c.854T>C

1 paper

NM_001953.5

p.A284delFs

c.851delG

1 paper

NM_001953.5

p.C293R

c.877T>C

2 papers

NM_001953.5

p.M294T

c.881T>C

3 papers

NM_001953.5

p.H283D

c.847C>G

1 paper

NM_001953.5

p.G282G

c.846C>T