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

2 papers

NM_020975.6

p.Q439R

c.1316A>G

Surrounding Variants

1 paper

NM_020975.6

p.Q439*

c.1315C>T

1 paper

NM_020975.6

p.V438A

c.1313T>C

1 paper

NM_020975.6

p.K441_H443del3

c.1321_1328del9

1 paper

NM_020975.6

p.V438I

c.1312G>A

1 paper

NM_020975.6

p.K441Q

c.1321A>C

1 paper

NM_020975.6

p.K441E

c.1321A>G

1 paper

NM_020975.6

p.N437K

c.1311C>A

1 paper

NM_020975.6

p.N437K

c.1311C>G

3 papers

NM_020975.6

p.N437N

c.1311C>T

2 papers

NM_020975.6

p.N437I

c.1310A>T

1 paper

NM_020975.6

p.L442P

c.1325T>C

1 paper

NM_020975.6

p.I436V

c.1306A>G