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.L423R

c.1268T>G

Surrounding Variants

1 paper

NM_001953.5

p.V425G

c.1274T>G

1 paper

NM_001953.5

p.V419M

c.1255G>A

1 paper

NM_001953.5

p.G428R

c.1282G>C

3 papers

NM_001953.5

p.G428S

c.1282G>A

5 papers

NM_001953.5

p.G428D

c.1283G>A

6 papers

NM_001953.5

p.G428G

c.1284T>A

5 papers

NM_001953.5

p.L417insFs

c.1249dupC

2 papers

NM_001953.5

p.Q429P

c.1286A>C

1 paper

NM_001953.5

p.R416H

c.1247G>A

1 paper

NM_001953.5

p.R430R

c.1290G>A

8 papers

NM_001953.5

p.A411_L415delFs

c.1231_1243del13

2 papers

NM_001953.5

p.P414P

c.1242G>A