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

6 papers

NM_020975.6

p.G423R

c.1267G>A

Surrounding Variants

6 papers

NM_020975.6

p.G423R

c.1267G>C

1 paper

NM_020975.6

p.G423fs

c.1267_1268fs

1 paper

NM_020975.6

p.I422I

c.1266C>T

1 paper

NM_020975.6

p.G423delFs

c.1268delG

1 paper

NM_020975.6

p.G423E

c.1268G>A

10 papers

NM_020975.6

p.G423G

c.1269G>A

1 paper

NM_020975.6

p.G423_K424insFs

c.1269_1270insT

1 paper

NM_020975.6

p.Q421_I422Splc

c.1264-1G>A

1 paper

NM_020975.6

p.Q421_I422Splc

c.1264-1G>C

1 paper

NM_020975.6

p.Q421_I422Splc

c.1264-1G>T

1 paper

NM_020975.6

p.K424N

c.1272A>C

1 paper

NM_020975.6

p.Q421_I422Splc

c.1264-2A>G