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

3 papers

NM_023110.3

p.T26I

c.77C>T

Surrounding Variants

1 paper

NM_023110.3

p.T26fs

c.76_77fs

1 paper

NM_023110.3

p.T26_L27insFs

c.78_79insA

1 paper

NM_023110.3

p.L27M

c.79T>A

1 paper

NM_023110.3

p.P25_T26delFs

c.75_78del4

2 papers

NM_023110.3

p.P25L

c.74C>T

1 paper

NM_023110.3

p.P25Q

c.74C>A

1 paper

NM_023110.3

p.L27F

c.81G>C

1 paper

NM_023110.3

p.P25S

c.73C>T

1 paper

NM_023110.3

p.P23_S24del1

c.68_70delACG

2 papers

NM_023110.3

p.P28L

c.83C>T

1 paper

NM_023110.3

p.S24F

c.71C>T

1 paper

NM_001174067.2

p.S57ins3

c.170_171ins9