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

2 papers

NM_001953.5

p.M273I

c.819G>T

Surrounding Variants

2 papers

NM_001953.5

p.M273I

c.819G>C

2 papers

NM_001953.5

p.M273I

c.819G>A

1 paper

NM_001953.5

p.M273R

c.818T>G

1 paper

NM_001953.5

p.M273T

c.818T>C

1 paper

NM_001953.5

p.P276T

c.826C>A

1 paper

NM_001953.5

p.P276L

c.827C>T

1 paper

NM_001953.5

p.P276P

c.828C>T

4 papers

NM_001953.5

p.L270P

c.809T>C

1 paper

NM_001953.5

p.A269S

c.805G>T

3 papers

NM_001953.5

p.G278D

c.833G>A

1 paper

NM_001953.5

p.A268A

c.804A>T

1 paper

NM_001953.5

p.A268G

c.803C>G