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

14 papers

NM_020975.6

p.K603Q

c.1807A>C

Surrounding Variants

15 papers

NM_020975.6

p.K603E

c.1807A>G

1 paper

NM_020975.6

p.K603delFs

c.1809delA

2 papers

NM_020975.6

p.K603N

c.1809A>C

2 papers

NM_020975.6

p.K603N

c.1809A>T

2 papers

NM_020975.6

p.I602V

c.1804A>G

1 paper

NM_020975.6

p.A604T

c.1810G>A

1 paper

NM_020975.6

p.A604S

c.1810G>T

2 papers

NM_020975.6

p.G601E

c.1802G>A

2 papers

NM_020975.6

p.G601W

c.1801G>T

2 papers

NM_020975.6

p.G605D

c.1814G>A

26 papers

NM_020975.6

p.R600Q

c.1799G>A

2 papers

NM_020975.6

p.R600L

c.1799G>T