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.D460_T461insFs

c.1380_1381insC

Surrounding Variants

3 papers

NM_020975.6

p.D460V

c.1379A>T

1 paper

NM_020975.6

p.D460N

c.1378G>A

2 papers

NM_020975.6

p.T461insFs

c.1381_1382insG

1 paper

NM_020975.6

p.T461delFs

c.1382delC

1 paper

NM_020975.6

p.T461_N468delFs

c.1382_1404del23

1 paper

NM_020975.6

p.E459E

c.1377G>A

1 paper

NM_020975.6

p.S462_T470del0

c.1384_1410del27

1 paper

NM_020975.6

p.E459A

c.1376A>C

6 papers

NM_020975.6

p.E459K

c.1375G>A

1 paper

NM_020975.6

p.A458A

c.1374C>G

1 paper

NM_020975.6

p.A458D

c.1373C>A

3 papers

NM_020975.6

p.S462L

c.1385C>T