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

57 papers

NM_020975.6

p.C618G

c.1852T>G

Surrounding Variants

129 papers

NM_020975.6

p.C618S

c.1852T>A

190 papers

NM_020975.6

p.C618R

c.1852T>C

74 papers

NM_020975.6

p.C618Y

c.1853G>A

130 papers

NM_020975.6

p.C618S

c.1853G>C

2 papers

NM_020975.6

p.K617N

c.1851G>C

79 papers

NM_020975.6

p.C618F

c.1853G>T

1 paper

NM_020975.6

p.K617N

c.1851G>T

12 papers

NM_020975.6

p.C618*

c.1854C>A

7 papers

NM_020975.6

p.C618W

c.1854C>G

1 paper

NM_020975.6

p.E616D

c.1848G>C

1 paper

NM_020975.6

p.E616D

c.1848G>T

1 paper

NM_020975.6

p.C620del1

c.1858_1860delTGC