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.C478delFs

c.1432_1433delTG

Surrounding Variants

3 papers

NM_020975.6

p.K477T

c.1430A>C

2 papers

NM_020975.6

p.K477delins

c.1430_1431delinsCT

1 paper

NM_020975.6

p.K477_A479insFs

c.1430_1437dup8

1 paper

NM_020975.6

p.C478Y

c.1433G>A

1 paper

NM_020975.6

p.C478F

c.1433G>T

1 paper

NM_020975.6

p.P476T

c.1426C>A

2 papers

NM_020975.6

p.A479S

c.1435G>T

12 papers

NM_020975.6

p.R475Q

c.1424G>A

9 papers

NM_020975.6

p.R475W

c.1423C>T

15 papers

NM_020975.6

p.E480K

c.1438G>A

1 paper

NM_020975.6

p.R474L

c.1421G>T

4 papers

NM_020975.6

p.R474W

c.1420C>T