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.A135V

c.404C>T

Surrounding Variants

1 paper

NM_001953.5

p.A134A

c.402G>A

4 papers

NM_001953.5

p.A134V

c.401C>T

5 papers

NM_001953.5

p.A134E

c.401C>A

1 paper

NM_001953.5

p.P131_A132delFs

c.392_396del5

4 papers

NM_001953.5

p.L133P

c.398T>C

3 papers

NM_001953.5

p.P131L

c.392C>T

1 paper

NM_001953.5

p.P131S

c.391C>T

3 papers

NM_001953.5

p.P131T

c.391C>A

4 papers

NM_001953.5

p.K139_V140Splc

c.417+1G>A

1 paper

NM_001953.5

p.L129L

c.387C>T

1 paper

NM_001953.5

p.V128V

c.384C>G

1 paper

NM_001953.5

p.L127L

c.381G>A