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.T675A

c.2023A>G

Surrounding Variants

1 paper

NM_020975.6

p.E673D

c.2019G>C

1 paper

NM_020975.6

p.E673D

c.2019G>T

2 papers

NM_020975.6

p.E673A

c.2018A>C

2 papers

NM_020975.6

p.R677W

c.2029C>T

1 paper

NM_020975.6

p.E673K

c.2017G>A

1 paper

NM_020975.6

p.R677Q

c.2030G>A

1 paper

NM_020975.6

p.R678delFs

c.2033delG

2 papers

NM_020975.6

p.A672T

c.2014G>A

1 paper

NM_020975.6

p.A672_E673insG

c.2014_2018ins3

2 papers

NM_020975.6

p.A672S

c.2014G>T

1 paper

NM_020975.6

p.S671L

c.2012C>T

1 paper

NM_020975.6

p.P679_A680insAG

c.2035_2039ins6