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.G539C

c.1615G>T

Surrounding Variants

10 papers

NM_020975.6

p.R540G

c.1618A>G

1 paper

NM_020975.6

p.P537fs

c.1609_1610fs

2 papers

NM_020975.6

p.C541R

c.1621T>C

1 paper

NM_020975.6

p.C541insFs

c.1621_1622ins5

2 papers

NM_020975.6

p.S536F

c.1607C>T

5 papers

NM_020975.6

p.C541*

c.1623T>A

36 papers

NM_020975.6

p.E542K

c.1624G>A

1 paper

NM_020975.6

p.E542fs

c.1624_1625fs

1 paper

NM_020975.6

p.P537delFs

c.1610delC

2 papers

NM_020975.6

p.E542V

c.1625A>T

2 papers

NM_020975.6

p.W543R

c.1627T>A

2 papers

NM_020975.6

p.W543R

c.1627T>C