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.G263_L264del2

c.787_791del6

Surrounding Variants

2 papers

NM_001953.5

p.G263R

c.787G>C

2 papers

NM_001953.5

p.G263R

c.787G>A

1 paper

NM_001953.5

p.L262fs

c.784_785fs

3 papers

NM_001953.5

p.L262delFs

c.784delG

1 paper

NM_001953.5

p.A267_A268insFs

c.801_802ins4

1 paper

NM_001953.5

p.A267A

c.801G>A

3 papers

NM_001953.5

p.V266_A267insFs

c.798_801dup4

1 paper

NM_001953.5

p.G259_S261del3

c.775_782del9

3 papers

NM_001953.5

p.A268fs

c.802_803fs

1 paper

NM_001953.5

p.A268G

c.803C>G

1 paper

NM_001953.5

p.A268A

c.804A>T

1 paper

NM_001953.5

p.A269S

c.805G>T