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

4 papers

NM_020975.6

p.A654V

c.1961C>T

Surrounding Variants

1 paper

NM_020975.6

p.F655_C656del2

c.1963_1967del6

4 papers

NM_020975.6

p.A654T

c.1960G>A

1 paper

NM_020975.6

p.A654P

c.1960G>C

2 papers

NM_020975.6

p.S653C

c.1958C>G

1 paper

NM_020975.6

p.S653T

c.1957T>A

2 papers

NM_020975.6

p.S653A

c.1957T>G

1 paper

NM_020975.6

p.L652L

c.1956G>C

1 paper

NM_020975.6

p.C656S

c.1966T>A

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.L652R

c.1955T>G