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.S690delins

c.2069_2070delinsTT

Surrounding Variants

1 paper

NM_020975.6

p.S690F

c.2069C>T

6 papers

NM_020975.6

p.S690P

c.2068T>C

1 paper

NM_020975.6

p.S690delFs

c.2070delC

356 papers

NM_020975.6

p.G691S

c.2071G>A

1 paper

NM_020975.6

p.G691R

c.2071G>C

1 paper

NM_020975.6

p.G691fs

c.2071_2072fs

1 paper

NM_020975.6

p.S689Y

c.2066C>A

1 paper

NM_020975.6

p.S689T

c.2065T>A

2 papers

NM_020975.6

p.A692P

c.2074G>C

2 papers

NM_020975.6

p.A692_R693insT

c.2074_2078ins3

1 paper

NM_020975.6

p.A692_R693insTG

c.2074_2078ins6

1 paper

NM_020975.6

p.A692S

c.2074G>T