Varaico: Literature-Extracted Genetic Variants

RET

5,388 papers

RefSeq Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related...

Pfam Domains

RET_CLD1aa 29–154UCSCRET Cadherin like domain 1

Cadherinaa 172–261UCSCCadherin domain

RET_CLD3aa 265–379UCSCRET Cadherin like domain 3

RET_CLD4aa 282–375UCSCRET Cadherin like domain 4

RET_CLD4aa 404–507UCSCRET Cadherin like domain 4

RET_CRDaa 518–620UCSCRET, Cysteine Rich Domain

Gene Aliases

HGNC Name

ret proto-oncogene

HGNC Previous Symbols

HSCR1; MEN2A; MTC1; MEN2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020975.6

p.S148_F149del1

c.444_446delCTT

Surrounding Variants

1 paper

NM_020975.6

p.S148F

c.443C>T

1 paper

NM_020975.6

p.S148A

c.442T>G

1 paper

NM_020975.6

p.S148delFs

c.443delC

1 paper

NM_020975.6

p.S148_F149delFs

c.444_447del4

1 paper

NM_020975.6

p.F149delFs

c.446_447delTC

2 papers

NM_020975.6

p.F147S

c.440T>C

2 papers

NM_020975.6

p.S148del1

c.442_443delTCC

2 papers

NM_020975.6

p.F147I

c.439T>A

1 paper

NM_020975.6

p.Y146*

c.438C>A

1 paper

NM_020975.6

p.Y146*

c.438C>G

1 paper

NM_020975.6

p.F150_N151delFs

c.449_452del4

2 papers

NM_020975.6

p.Y146insFs

c.437_438insGG