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.L326P

c.977T>C

Surrounding Variants

1 paper

NM_023110.3

p.L326F

c.976C>T

1 paper

NM_023110.3

p.L326V

c.976C>G

1 paper

NM_023110.3

p.H327Y

c.979C>T

1 paper

NM_023110.3

p.H327L

c.980A>T

1 paper

NM_023110.3

p.V325L

c.973G>C

1 paper

NM_023110.3

p.V325M

c.973G>A

3 papers

NM_023110.3

p.E324*

c.970G>T

1 paper

NM_001174065.2

p.M321delFs

c.962_963delCA

6 papers

NM_023110.3

p.M323I

c.969G>T

6 papers

NM_023110.3

p.M323I

c.969G>C

6 papers

NM_023110.3

p.M323I

c.969G>A

1 paper

NM_023110.3

p.R329R

c.987A>G