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

65 papers

NM_020975.6

p.G810R

c.2428G>C

Surrounding Variants

69 papers

NM_020975.6

p.G810S

c.2428G>A

71 papers

NM_020975.6

p.G810C

c.2428G>T

1 paper

NM_020975.6

p.Y809Y

c.2427C>T

4 papers

NM_020975.6

p.G810D

c.2429G>A

34 papers

NM_020975.6

p.G810A

c.2429G>C

6 papers

NM_020975.6

p.G810V

c.2429G>T

1 paper

NM_020975.6

p.Y809F

c.2426A>T

1 paper

NM_020975.6

p.S811C

c.2432C>G

6 papers

NM_020975.6

p.S811F

c.2432C>T

1 paper

NM_020975.6

p.L812_R820del9

c.2434_2459del27

1 paper

NM_020975.6

p.K808T

c.2423A>C

1 paper

NM_020975.6

p.K808R

c.2423A>G