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

4 papers

NM_020975.6

p.E775Fs

c.2324delinsGACFs

Surrounding Variants

2 papers

NM_020975.6

p.E775ins4

c.2324_2325ins12

1 paper

NM_020975.6

p.E775A

c.2324A>C

1 paper

NM_020975.6

p.E775insFs

c.2323_2324insGA

1 paper

NM_020975.6

p.F776ins1

c.2326_2327insTAT

1 paper

NM_020975.6

p.F776ins1

c.2326_2327insTCT

5 papers

NM_020975.6

p.E775fs

c.2323_2324fs

1 paper

NM_020975.6

p.S774_E775ins4

c.2322_2323ins12

3 papers

NM_020975.6

p.F776L

c.2326T>C

2 papers

NM_020975.6

p.S774*

c.2321C>A

2 papers

NM_020975.6

p.S774*

c.2321C>G

1 paper

NM_020975.6

p.S774delFs

c.2322delA

3 papers

NM_020975.6

p.F776L

c.2328C>A