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.S105S

c.315C>T

Surrounding Variants

1 paper

NM_020975.6

p.S105F

c.314C>T

1 paper

NM_020975.6

p.W106delFs

c.318delG

1 paper

NM_020975.6

p.W106*

c.317G>A

1 paper

NM_020975.6

p.W106L

c.317G>T

2 papers

NM_020975.6

p.W106*

c.318G>A

2 papers

NM_020975.6

p.E107K

c.319G>A

1 paper

NM_020975.6

p.E107Q

c.319G>C

1 paper

NM_020975.6

p.S104fs

c.310_311fs

1 paper

NM_020975.6

p.E107A

c.320A>C

1 paper

NM_020975.6

p.S104G

c.310A>G

1 paper

NM_020975.6

p.E107V

c.320A>T

1 paper

NM_020975.6

p.H103insFs

c.308_309insGT