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

3 papers

NM_020975.6

p.D631del1

c.1891_1892delGAC

Surrounding Variants

32 papers

NM_020975.6

p.C630Y

c.1889G>A

22 papers

NM_020975.6

p.C630S

c.1889G>C

26 papers

NM_020975.6

p.C630F

c.1889G>T

5 papers

NM_020975.6

p.C630*

c.1890C>A

1 paper

NM_020975.6

p.C630W

c.1890C>G

3 papers

NM_020975.6

p.C630C

c.1890C>T

22 papers

NM_020975.6

p.C630S

c.1888T>A

109 papers

NM_020975.6

p.C630R

c.1888T>C

15 papers

NM_020975.6

p.C630G

c.1888T>G

14 papers

NM_020975.6

p.D631N

c.1891G>A

1 paper

NM_020975.6

p.D631_R635ins1

c.1892_1903dup12

76 papers

NM_020975.6

p.D631Y

c.1891G>T