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.I143V

c.427A>G

Surrounding Variants

1 paper

NM_001953.5

p.M142I

c.426G>T

1 paper

NM_001953.5

p.M142I

c.426G>C

1 paper

NM_001953.5

p.M142I

c.426G>A

1 paper

NM_001953.5

p.S144R

c.430A>C

1 paper

NM_001953.5

p.S144T

c.431G>C

1 paper

NM_001953.5

p.S144R

c.432C>G

1 paper

NM_001953.5

p.S144R

c.432C>A

13 papers

NM_001953.5

p.G145R

c.433G>C

16 papers

NM_001953.5

p.G145R

c.433G>A

1 paper

NM_001953.5

p.K139_V140Splc

c.418-1G>T

1 paper

NM_001953.5

p.K139_V140Splc

c.418-1G>C

2 papers

NM_001953.5

p.R146H

c.437G>A