Varaico: Literature-Extracted Genetic Variants

FGFR1

2,164 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family...

Pfam Domains

igaa 41–114UCSCImmunoglobulin domain

I-setaa 158–245UCSCImmunoglobulin I-set domain

I-setaa 257–356UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 474–750UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 1

HGNC Previous Symbols

FLT2; KAL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023110.3

p.N659T

c.1976A>C

Surrounding Variants

1 paper

NM_023110.3

p.N659I

c.1976A>T

1 paper

NM_023110.3

p.N659S

c.1976A>G

3 papers

NM_023110.3

p.N659K

c.1977C>G

1 paper

NM_023110.3

p.N659fs

c.1975_1976fs

3 papers

NM_023110.3

p.N659K

c.1977C>A

1 paper

NM_023110.3

p.N659Y

c.1975A>T

1 paper

NM_023110.3

p.N659D

c.1975A>G

1 paper

NM_023110.3

p.N659H

c.1975A>C

1 paper

NM_023110.3

p.N659_G660Splc

c.1977+1G>T

1 paper

NM_023110.3

p.N659_G660Splc

c.1977+1G>C

10 papers

NM_023106.3

p.N568_G569Splc

c.1704+1G>A

NM_023110.3

p.N659_G660Splc

c.1977+1G>A

1 paper

NM_023110.3

p.T658_N659delFs

c.1974_1977del4