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.C656S

c.1966T>A

Surrounding Variants

2 papers

NM_020975.6

p.C656Y

c.1967G>A

1 paper

NM_020975.6

p.C656S

c.1967G>C

2 papers

NM_020975.6

p.C656F

c.1967G>T

1 paper

NM_020975.6

p.C656*

c.1968C>A

2 papers

NM_020975.6

p.I657S

c.1970T>G

4 papers

NM_020975.6

p.A654V

c.1961C>T

1 paper

NM_020975.6

p.F655_C656del2

c.1963_1967del6

3 papers

NM_020975.6

p.H658Y

c.1972C>T

4 papers

NM_020975.6

p.A654T

c.1960G>A

1 paper

NM_020975.6

p.A654P

c.1960G>C

1 paper

NM_020975.6

p.H658R

c.1973A>G

1 paper

NM_020975.6

p.H658Q

c.1974C>A