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.C725S

c.2174G>C

Surrounding Variants

9 papers

NM_023110.3

p.C725Y

c.2174G>A

1 paper

NM_023110.3

p.C725R

c.2173T>C

1 paper

NM_023110.3

p.C725S

c.2173T>A

1 paper

NM_023110.3

p.C725*

c.2175C>A

13 papers

NM_023110.3

p.N724K

c.2172C>G

13 papers

NM_023110.3

p.N724K

c.2172C>A

1 paper

NM_023110.3

p.T726S

c.2176A>T

1 paper

NM_023110.3

p.T726I

c.2177C>T

1 paper

NM_023110.3

p.T726S

c.2177C>G

2 papers

NM_001354369.2

p.T722N

c.2165C>A

NM_023110.3

p.T726N

c.2177C>A

1 paper

NM_023110.3

p.N724I

c.2171A>T

1 paper

NM_023110.3

p.N724S

c.2171A>G