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

74 papers

NM_020975.6

p.K666E

c.1996A>G

Surrounding Variants

2 papers

NM_020975.6

p.K666Q

c.1996A>C

1 paper

NM_020975.6

p.K666*

c.1996A>T

1 paper

NM_020975.6

p.K666insFs

c.1997_1998ins4

2 papers

NM_020975.6

p.K666T

c.1997A>C

6 papers

NM_020975.6

p.K666R

c.1997A>G

14 papers

NM_020975.6

p.K666M

c.1997A>T

5 papers

NM_020975.6

p.H665Q

c.1995C>A

5 papers

NM_020975.6

p.H665Q

c.1995C>G

2 papers

NM_020975.6

p.K666K

c.1998G>A

47 papers

NM_020975.6

p.K666N

c.1998G>C

46 papers

NM_020975.6

p.K666N

c.1998G>T

1 paper

NM_020975.6

p.K666Fs

c.1998delinsTTCFs