Varaico: Literature-Extracted Genetic Variants

Gene:CRHR1
Variant:p.W259*

CRHR1

116 papers

RefSeq Summary

This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encod...

Pfam Domains

7tm_2aa 15–258UCSC7 transmembrane receptor (Secretin family)
HRMaa 41–105UCSCHormone receptor domain

Gene Aliases

HGNC Name

corticotropin releasing hormone receptor 1

HGNC Alias Symbols

CRF-R; CRF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004382.5
p.W259*
c.776G>A
Surrounding Variants
1 paper
NM_004382.5
p.C258S
c.773G>C
1 paper
NM_004382.5
p.C258S
c.772T>A
1 paper
NM_004382.5
p.K262R
c.785A>G
1 paper
NM_004382.5
p.P275A
c.823C>G
2 papers
NM_004382.5
p.M276I
c.828G>A
2 papers
NM_004382.5
p.M276I
c.828G>C
2 papers
NM_004382.5
p.M276I
c.828G>T
1 paper
NM_004382.5
p.V279fs
c.835_836fs
1 paper
NM_004382.5
p.F286F
c.858C>T
1 paper
NM_004382.5
p.N289N
c.867C>T
1 paper
NM_004382.5
p.R292C
c.874C>T
1 paper
NM_004382.5
p.R299Q
c.896G>A
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