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.P257L

c.770C>T

Surrounding Variants

1 paper

NM_020975.6

p.P257_V260delFs

c.771_780del10

1 paper

NM_020975.6

p.P257T

c.769C>A

1 paper

NM_020975.6

p.P257_F258insTA

c.769_773ins6

1 paper

NM_020975.6

p.P257S

c.769C>T

1 paper

NM_020975.6

p.V256V

c.768G>A

1 paper

NM_020975.6

p.F258fs

c.772_773fs

1 paper

NM_020975.6

p.F258Y

c.773T>A

1 paper

NM_020975.6

p.V256_P257insFs

c.768_769insAG

3 papers

NM_020975.6

p.P259delFs

c.776delC

1 paper

NM_020975.6

p.P259A

c.775C>G

5 papers

NM_020975.6

p.M255I

c.765G>A

6 papers

NM_020975.6

p.M255I

c.765G>C