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.S50N

c.149G>A

Surrounding Variants

1 paper

NM_001953.5

p.S50S

c.150C>T

3 papers

NM_001953.5

p.E51*

c.151G>T

1 paper

NM_001953.5

p.E51K

c.151G>A

3 papers

NM_001953.5

p.A52T

c.154G>A

1 paper

NM_001953.5

p.A52E

c.155C>A

1 paper

NM_001953.5

p.A52A

c.156G>C

1 paper

NM_001953.5

p.D53E

c.159C>G

3 papers

NM_001953.5

p.I54M

c.162C>G

2 papers

NM_001953.5

p.R44P

c.131G>C

11 papers

NM_001953.5

p.R44Q

c.131G>A

5 papers

NM_001953.5

p.R44*

c.130C>T

4 papers

NM_001953.5

p.K43T

c.128A>C