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

2 papers

NM_023110.3

p.P33L

c.98C>T

Surrounding Variants

1 paper

NM_023110.3

p.Q32_P33delFs

c.96_97delGC

2 papers

NM_023110.3

p.P33S

c.97C>T

1 paper

NM_023110.3

p.Q32H

c.96G>T

1 paper

NM_023110.3

p.Q32insFs

c.95dupA

1 paper

NM_023110.3

p.Q32H

c.96G>C

2 papers

NM_023110.3

p.W34*

c.101G>A

1 paper

NM_023110.3

p.W34delFs

c.100_101delCA

1 paper

NM_023110.3

p.Q32*

c.94C>T

5 papers

NM_023110.3

p.G35R

c.103G>C

6 papers

NM_023110.3

p.G35R

c.103G>A

2 papers

NM_023110.3

p.G35fs

c.103_104fs

2 papers

NM_023110.3

p.G35V

c.104G>T