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

2 papers

NM_020975.6

p.L895S

c.2684T>C

Surrounding Variants

2 papers

NM_020975.6

p.S896F

c.2687C>T

1 paper

NM_020975.6

p.G894V

c.2681G>T

14 papers

NM_020975.6

p.G894S

c.2680G>A

11 papers

NM_020975.6

p.F893L

c.2679C>A

11 papers

NM_020975.6

p.F893L

c.2679C>G

1 paper

NM_020975.6

p.R897G

c.2689C>G

2 papers

NM_020975.6

p.R897*

c.2689C>T

1 paper

NM_020975.6

p.F893F

c.2679C>T

27 papers

NM_020975.6

p.R897Q

c.2690G>A

1 paper

NM_020975.6

p.R897P

c.2690G>C

17 papers

NM_020975.6

p.D898_E901del0

c.2692_2703del12

NM_001355216.2

p.D898_E902del0

c.2694_2705del12

1 paper

NM_020975.6

p.F893Y

c.2678T>A