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.Q89*

c.265C>T

Surrounding Variants

1 paper

NM_023110.3

p.V88delFs

c.263_264delCA

1 paper

NM_023110.3

p.E84_V88del5

c.250_263del15

1 paper

NM_023110.3

p.V88V

c.264G>A

1 paper

NM_023110.3

p.Q89L

c.266A>T

4 papers

NM_023110.3

p.Q89R

c.266A>G

1 paper

NM_023110.3

p.Q89H

c.267G>T

1 paper

NM_023110.3

p.Q89H

c.267G>C

1 paper

NM_023110.3

p.Q89Q

c.267G>A

2 papers

NM_023110.3

p.V88L

c.262G>T

1 paper

NM_001174067.2

p.D123Y

c.367G>T

3 papers

NM_023110.3

p.D90H

c.268G>C

2 papers

NM_023110.3

p.V88L

c.262G>C