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

2 papers

NM_020975.6

p.V650A

c.1949T>C

Surrounding Variants

1 paper

NM_020975.6

p.V650M

c.1948G>A

1 paper

NM_020975.6

p.L651V

c.1951C>G

5 papers

NM_020975.6

p.S649S

c.1947G>A

1 paper

NM_020975.6

p.S649S

c.1947G>T

1 paper

NM_020975.6

p.S649_V650ins4

c.1947_1948ins12

97 papers

NM_020975.6

p.S649L

c.1946C>T

1 paper

NM_020975.6

p.L651Q

c.1952T>A

1 paper

NM_020975.6

p.L651P

c.1952T>C

2 papers

NM_020975.6

p.L651L

c.1953G>A

1 paper

NM_020975.6

p.S649P

c.1945T>C

2 papers

NM_020975.6

p.S649A

c.1945T>G

1 paper

NM_020975.6

p.L652R

c.1955T>G