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

18 papers

NM_023110.3

p.R254W

c.760C>T

Surrounding Variants

15 papers

NM_023110.3

p.R254Q

c.761G>A

6 papers

NM_023110.3

p.H253P

c.758A>C

1 paper

NM_023110.3

p.H253Y

c.757C>T

1 paper

NM_023110.3

p.P255L

c.764C>T

1 paper

NM_023110.3

p.P252L

c.755C>T

124 papers

NM_023110.3

p.P252R

c.755C>G

8 papers

NM_023110.3

p.P252S

c.754C>T

NM_001174065.2

p.P250S

c.748C>T

28 papers

NM_023110.3

p.P252T

c.754C>A

1 paper

NM_023110.3

p.E249_S251delFs

c.747_753del7

1 paper

NM_023110.3

p.I256V

c.766A>G

3 papers

NM_023110.3

p.S251F

c.752C>T

1 paper

NM_023110.3

p.E249_S251del0

c.746_751del6