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.K115N

c.345G>T

Surrounding Variants

1 paper

NM_001953.5

p.K115N

c.345G>C

1 paper

NM_001953.5

p.K115E

c.343A>G

1 paper

NM_001953.5

p.D114E

c.342C>G

1 paper

NM_001953.5

p.S117A

c.349T>G

8 papers

NM_001953.5

p.D114N

c.340G>A

1 paper

NM_001953.5

p.S117S

c.351C>T

1 paper

NM_001953.5

p.V113L

c.337G>T

1 paper

NM_001953.5

p.V113L

c.337G>C

1 paper

NM_001953.5

p.T118T

c.354A>G

1 paper

NM_001953.5

p.G119R

c.355G>C

1 paper

NM_001953.5

p.G119R

c.355G>A

1 paper

NM_001953.5

p.G120fs

c.358_359fs