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

1 paper

NM_020975.6

p.A249insFs

c.745_746insA

Surrounding Variants

4 papers

NM_020975.6

p.A249G

c.746C>G

2 papers

NM_020975.6

p.G248D

c.743G>A

1 paper

NM_020975.6

p.G248insFs

c.744dupC

1 paper

NM_020975.6

p.A249A

c.747G>T

4 papers

NM_020975.6

p.R250C

c.748C>T

5 papers

NM_020975.6

p.G248S

c.742G>A

1 paper

NM_020975.6

p.R250_E251delFs

c.750_751delCG

1 paper

NM_020975.6

p.R250P

c.749G>C

1 paper

NM_020975.6

p.R250L

c.749G>T

1 paper

NM_020975.6

p.R250delFs

c.750delC

1 paper

NM_020975.6

p.A247D

c.740C>A

1 paper

NM_020975.6

p.A247G

c.740C>G