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

46 papers

NM_020975.6

p.C609F

c.1826G>T

Surrounding Variants

91 papers

NM_020975.6

p.C609Y

c.1826G>A

43 papers

NM_020975.6

p.C609S

c.1826G>C

9 papers

NM_020975.6

p.C609*

c.1827C>A

24 papers

NM_020975.6

p.C609W

c.1827C>G

3 papers

NM_020975.6

p.C609C

c.1827C>T

44 papers

NM_020975.6

p.C609S

c.1825T>A

52 papers

NM_020975.6

p.C609R

c.1825T>C

27 papers

NM_020975.6

p.C609G

c.1825T>G

6 papers

NM_020975.6

p.F612_C620del0

c.1834_1860del27

26 papers

NM_020975.6

p.C611S

c.1831T>A

58 papers

NM_020975.6

p.C611R

c.1831T>C

22 papers

NM_020975.6

p.C611G

c.1831T>G