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.Y687_S688del2

c.2059_2063del6

Surrounding Variants

3 papers

NM_020975.6

p.S686N

c.2057G>A

1 paper

NM_020975.6

p.S686R

c.2056A>C

1 paper

NM_020975.6

p.S686R

c.2058C>A

1 paper

NM_020975.6

p.S686R

c.2058C>G

1 paper

NM_020975.6

p.S686_S689del4

c.2056_2066del12

7 papers

NM_020975.6

p.Y687F

c.2060A>T

1 paper

NM_020975.6

p.S686_S688del3

c.2056_2063del9

1 paper

NM_020975.6

p.Y687*

c.2061C>A

1 paper

NM_020975.6

p.Y687*

c.2061C>G

2 papers

NM_020975.6

p.V685I

c.2053G>A

1 paper

NM_020975.6

p.V685F

c.2053G>T

1 paper

NM_020975.6

p.P684P

c.2052G>A