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.L257P

c.770T>C

Surrounding Variants

1 paper

NM_023110.3

p.L257R

c.770T>G

2 papers

NM_023110.3

p.L257L

c.769C>T

3 papers

NM_023110.3

p.Q258*

c.772C>T

NM_001174064.2

p.Q250*

c.748C>T

1 paper

NM_023110.3

p.I256V

c.766A>G

1 paper

NM_023110.3

p.A259T

c.775G>A

1 paper

NM_023110.3

p.P255L

c.764C>T

1 paper

NM_023110.3

p.G260insFs

c.778_779insA

4 papers

NM_023110.3

p.G260R

c.778G>C

4 papers

NM_023110.3

p.G260R

c.778G>A

1 paper

NM_023110.3

p.G260A

c.779G>C

15 papers

NM_023110.3

p.R254Q

c.761G>A

3 papers

NM_023110.3

p.G260E

c.779G>A

NM_001174067.2

p.G291E

c.872G>A