Varaico: Literature-Extracted Genetic Variants

CELSR1

270 papers

RefSeq Summary

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not in...

Pfam Domains

Cadherinaa 250–344UCSCCadherin domain

Cadherinaa 358–450UCSCCadherin domain

Cadherinaa 464–556UCSCCadherin domain

Cadherinaa 570–678UCSCCadherin domain

Cadherinaa 692–780UCSCCadherin domain

Cadherinaa 794–883UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin EGF LAG seven-pass G-type receptor 1

HGNC Alias Symbols

HFMI2; FMI2; CDHF9; ADGRC1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 533 variants

6 papers

NM_001378328.1

p.S664W

c.1991C>G

6 papers

NM_001378328.1

p.P870L

c.2609C>T

6 papers

NM_001378328.1

p.R2438Q

c.7313G>A

5 papers

NM_001378328.1

p.P2983A

c.8947C>G

4 papers

NM_001378328.1

p.R541W

c.1621C>T

4 papers

NM_001378328.1

p.L556V

c.1666C>G

4 papers

NM_001378328.1

p.I2107V

c.6319A>G

4 papers

NM_001378328.1

p.T2268A

c.6802A>G

4 papers

NM_001378328.1

p.E2276Q

c.6826G>C

4 papers

NM_001378328.1

p.S2761L

c.8282C>T

3 papers

NM_001378328.1

p.E290*

c.868G>T

3 papers

NM_001378328.1

p.V551M

c.1651G>A