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.K789N

c.2367A>C

Surrounding Variants

1 paper

NM_020975.6

p.K789N

c.2367A>T

1 paper

NM_020975.6

p.K789T

c.2366A>C

1 paper

NM_020975.6

p.L790V

c.2368T>G

2 papers

NM_020975.6

p.K789E

c.2365A>G

2 papers

NM_020975.6

p.L790*

c.2369T>A

4 papers

NM_020975.6

p.I788I

c.2364C>T

212 papers

NM_020975.6

p.L790F

c.2370G>C

212 papers

NM_020975.6

p.L790F

c.2370G>T

18 papers

NM_020975.6

p.Y791N

c.2371T>A

10 papers

NM_020975.6

p.I788N

c.2363T>A

1 paper

NM_020975.6

p.I788S

c.2363T>G

296 papers

NM_020975.6

p.Y791F

c.2372A>T