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

24 papers

NM_020975.6

p.E632K

c.1894G>A

Surrounding Variants

1 paper

NM_020975.6

p.E632Q

c.1894G>C

2 papers

NM_020975.6

p.E632fs

c.1894_1895fs

3 papers

NM_020975.6

p.E632*

c.1894G>T

6 papers

NM_020975.6

p.E632_L633del1

c.1895_1897delAGC

1 paper

NM_020975.6

p.E632_C634del0

c.1895_1900del6

1 paper

NM_020975.6

p.E632_T636delins

c.1894_1906delinsAGCT

1 paper

NM_020975.6

p.E632_A639delins

c.1894_1917delinsCACCGT

1 paper

NM_020975.6

p.E632G

c.1895A>G

4 papers

NM_020975.6

p.L633del1

c.1897_1898delCTG

1 paper

NM_020975.6

p.E632_V637delins

c.1895_1910delinsCAGC

2 papers

NM_020975.6

p.E632_A640delins

c.1895_1918delinsTGCGGC

7 papers

NM_020975.6

p.D631E

c.1893C>A