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.T291A

c.871A>G

Surrounding Variants

1 paper

NM_020975.6

p.T291S

c.871A>T

1 paper

NM_020975.6

p.D290E

c.870C>A

1 paper

NM_020975.6

p.D290_A294delFs

c.870_880del11

2 papers

NM_020975.6

p.V292insFs

c.874_875insG

67 papers

NM_020975.6

p.V292M

c.874G>A

2 papers

NM_020975.6

p.D290N

c.868G>A

3 papers

NM_020975.6

p.E289_D290Splc

c.868-1G>A

1 paper

NM_020975.6

p.E289_D290Splc

c.868-2A>T

1 paper

NM_020975.6

p.D290delFs

c.868delG

1 paper

NM_020975.6

p.A294delFs

c.880delG

1 paper

NM_020975.6

p.A294delFs

c.881delC

1 paper

NM_020975.6

p.A294V

c.881C>T