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

3 papers

NM_020975.6

p.T636_V637ins3

c.1908_1909ins9

Surrounding Variants

2 papers

NM_020975.6

p.L633P

c.1898T>C

1 paper

NM_020975.6

p.L633R

c.1898T>G

6 papers

NM_020975.6

p.L633V

c.1897C>G

1 paper

NM_020975.6

p.L633L

c.1897C>T

1 paper

NM_020975.6

p.L633L

c.1899G>A

1 paper

NM_020975.6

p.L633_C634ins2

c.1899_1900ins6

1 paper

NM_020975.6

p.A640_A641ins7

c.1920_1921ins21

3 papers

NM_020975.6

p.L633_C634delins

c.1899_1900delinsTG

2 papers

NM_020975.6

p.E632E

c.1896G>A

2 papers

NM_020975.6

p.E632D

c.1896G>C

2 papers

NM_020975.6

p.E632D

c.1896G>T

1 paper

NM_020975.6

p.E632_C634delins

c.1896_1900delinsCGTGC