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.V185_Q187Fs

c.554_559delinsTGTGFs

Surrounding Variants

2 papers

NM_001953.5

p.Q187*

c.559C>T

1 paper

NM_001953.5

p.Q187H

c.561G>T

1 paper

NM_001953.5

p.Q187H

c.561G>C

1 paper

NM_001953.5

p.V185E

c.554T>A

1 paper

NM_001953.5

p.L191L

c.571C>T

1 paper

NM_001953.5

p.G181V

c.542G>T

1 paper

NM_001953.5

p.G181S

c.541G>A

1 paper

NM_001953.5

p.P193P

c.579T>C

1 paper

NM_001953.5

p.A194T

c.580G>A

1 paper

NM_001953.5

p.Q179P

c.536A>C

1 paper

NM_001953.5

p.D195N

c.583G>A

2 papers

NM_001953.5

p.D195E

c.585C>G