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

1 paper

NM_020975.6

p.L870F

c.2608C>T

Surrounding Variants

1 paper

NM_020975.6

p.L870_I880del11

c.2608_2639del33

2 papers

NM_020975.6

p.K869_L870Splc

c.2608-3C>G

23 papers

NM_020975.6

p.V871I

c.2611G>A

1 paper

NM_020975.6

p.K869_L870Splc

c.2608-4A>G

1 paper

NM_020975.6

p.H872L

c.2615A>T

7 papers

NM_020975.6

p.R873W

c.2617C>T

19 papers

NM_020975.6

p.R873Q

c.2618G>A

1 paper

NM_020975.6

p.R873P

c.2618G>C

1 paper

NM_020975.6

p.D874E

c.2622C>A

1 paper

NM_020975.6

p.D874E

c.2622C>G

1 paper

NM_020975.6

p.A876_V882del0

c.2627_2644del18

6 papers

NM_020975.6

p.A876V

c.2627C>T