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.P766_S767insFs

c.2298_2299insC

Surrounding Variants

1 paper

NM_020975.6

p.P766P

c.2298G>A

2 papers

NM_020975.6

p.S767insFs

c.2299_2300insC

18 papers

NM_020975.6

p.S767R

c.2299A>C

2 papers

NM_020975.6

p.P766Q

c.2297C>A

7 papers

NM_020975.6

p.P766L

c.2297C>T

8 papers

NM_020975.6

p.P766S

c.2296C>T

1 paper

NM_020975.6

p.S767N

c.2300G>A

1 paper

NM_020975.6

p.S767I

c.2300G>T

1 paper

NM_020975.6

p.P766_S767del2

c.2296_2300del6

18 papers

NM_020975.6

p.S767R

c.2301T>A

18 papers

NM_020975.6

p.S767R

c.2301T>G

2 papers

NM_020975.6

p.E768Q

c.2302G>C