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.D554A

c.1661A>C

Surrounding Variants

1 paper

NM_023110.3

p.D554V

c.1661A>T

2 papers

NM_023110.3

p.D554G

c.1661A>G

1 paper

NM_023110.3

p.D554E

c.1662T>G

1 paper

NM_023110.3

p.D554D

c.1662T>C

1 paper

NM_023110.3

p.D554E

c.1662T>A

1 paper

NM_023110.3

p.D554Y

c.1660G>T

1 paper

NM_023110.3

p.D554H

c.1660G>C

2 papers

NM_023110.3

p.D554N

c.1660G>A

1 paper

NM_023110.3

p.G555C

c.1663G>T

1 paper

NM_023110.3

p.Q553H

c.1659G>T

1 paper

NM_023110.3

p.G555R

c.1663G>C

1 paper

NM_023110.3

p.Q553H

c.1659G>C