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.I647F

c.1939A>T

Surrounding Variants

2 papers

NM_020975.6

p.F646_I647Fs

c.1938_1940delinsAFs

1 paper

NM_020975.6

p.I647N

c.1940T>A

8 papers

NM_020975.6

p.I647I

c.1941C>T

37 papers

NM_020975.6

p.V648I

c.1942G>A

2 papers

NM_020975.6

p.F646fs

c.1936_1937fs

1 paper

NM_020975.6

p.F646ins10

c.1936_1937ins30

1 paper

NM_020975.6

p.S649_F655del0

c.1946_1963del18

1 paper

NM_020975.6

p.S645F

c.1934C>T

1 paper

NM_020975.6

p.S645_F646delFs

c.1935_1936delCT

1 paper

NM_020975.6

p.S645P

c.1933T>C

1 paper

NM_020975.6

p.S649P

c.1945T>C

2 papers

NM_020975.6

p.S645A

c.1933T>G