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.R297H

c.890G>A

Surrounding Variants

3 papers

NM_020975.6

p.R297L

c.890G>T

4 papers

NM_020975.6

p.R297C

c.889C>T

1 paper

NM_020975.6

p.V298I

c.892G>A

1 paper

NM_020975.6

p.V298L

c.892G>C

1 paper

NM_020975.6

p.L296P

c.887T>C

1 paper

NM_020975.6

p.L296insFs

c.886_887insCT

1 paper

NM_020975.6

p.T295R

c.884C>G

3 papers

NM_020975.6

p.T295M

c.884C>T

33 papers

NM_020975.6

p.T295S

c.883A>T

1 paper

NM_020975.6

p.T295delFs

c.884delC

1 paper

NM_020975.6

p.A294A

c.882C>A

1 paper

NM_020975.6

p.A294A

c.882C>G