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.E522D

c.1566G>C

Surrounding Variants

2 papers

NM_023110.3

p.E522D

c.1566G>T

2 papers

NM_023110.3

p.E522E

c.1566G>A

1 paper

NM_023110.3

p.K523*

c.1567A>T

1 paper

NM_023110.3

p.E522V

c.1565A>T

2 papers

NM_023110.3

p.K523E

c.1567A>G

1 paper

NM_023110.3

p.E522G

c.1565A>G

1 paper

NM_023110.3

p.K523Q

c.1567A>C

1 paper

NM_023110.3

p.E522A

c.1565A>C

1 paper

NM_023110.3

p.E522*

c.1564G>T

1 paper

NM_023110.3

p.E522Q

c.1564G>C

2 papers

NM_023110.3

p.E522K

c.1564G>A

1 paper

NM_023110.3

p.K523I

c.1568A>T