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.F9delFs

c.26delA

Surrounding Variants

1 paper

NM_023110.3

p.F9delFs

c.27delG

1 paper

NM_023110.3

p.W10*

c.29G>A

1 paper

NM_023110.3

p.W10*

c.30G>A

1 paper

NM_023110.3

p.L8L

c.24C>T

1 paper

NM_023110.3

p.L8H

c.23T>A

1 paper

NM_023110.3

p.L7L

c.21C>T

7 papers

NM_023110.3

p.L7R

c.20T>G

1 paper

NM_023110.3

p.L7P

c.20T>C

2 papers

NM_023110.3

p.V12L

c.34G>T

2 papers

NM_023110.3

p.V12L

c.34G>C

2 papers

NM_023110.3

p.V12M

c.34G>A

1 paper

NM_023110.3

p.A11_V12delins

c.33_34delinsCT