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.M1insFs

c.2_3insT

Surrounding Variants

1 paper

NM_001953.5

p.M1I

c.3G>A

1 paper

NM_001953.5

p.M1T

c.2T>C

1 paper

NM_001953.5

p.M1K

c.2T>A

1 paper

NM_001953.5

p.L4L

c.10T>C

1 paper

NM_001953.5

p.P7S

c.19C>T

2 papers

NM_001953.5

p.G10R

c.28G>C

2 papers

NM_001953.5

p.G10R

c.28G>A

1 paper

NM_001953.5

p.A11G

c.32C>G

1 paper

NM_001953.5

p.A11A

c.33C>A

2 papers

NM_001953.5

p.P12L

c.35C>T

1 paper

NM_001953.5

p.A11delFs

c.33delG

1 paper

NM_001953.5

p.F18fs

c.52_53fs