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.A406insFs

c.1216dupG

Surrounding Variants

1 paper

NM_001953.5

p.A398_A406ins3

c.1193_1216dup24

1 paper

NM_001953.5

p.G407R

c.1219G>C

1 paper

NM_001953.5

p.G407R

c.1219G>A

1 paper

NM_001953.5

p.G405R

c.1213G>C

1 paper

NM_001953.5

p.G405R

c.1213G>A

1 paper

NM_001953.5

p.G405fs

c.1213_1214fs

6 papers

NM_001953.5

p.L404insFs

c.1211_1212insT

1 paper

NM_001953.5

p.L404P

c.1211T>C

1 paper

NM_001953.5

p.L404F

c.1210C>T

1 paper

NM_001953.5

p.R410fs

c.1228_1229fs

3 papers

NM_001953.5

p.V400_L401del0

c.1198_1203del6

2 papers

NM_001953.5

p.R393_L401ins3

c.1178_1201dup24

NM_001257989.1

p.R398_L406ins3

c.1193_1216dup24