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.W2*

c.6G>A

Surrounding Variants

1 paper

NM_023110.3

p.W2insFs

c.4dupT

2 papers

NM_023110.3

p.W2*

c.5G>A

2 papers

NM_023110.3

p.W2delFs

c.6delC

2 papers

NM_023110.3

p.W2R

c.4T>A

2 papers

NM_023110.3

p.S3I

c.8G>T

1 paper

NM_023110.3

p.S3N

c.8G>A

4 papers

NM_023110.3

p.M1I

c.3G>T

2 papers

NM_023110.3

p.M1_W2insFs

c.3_4insT

2 papers

NM_023110.3

p.M1_W2insFs

c.3_4insA

4 papers

NM_023110.3

p.M1I

c.3G>C

4 papers

NM_023110.3

p.M1I

c.3G>A

2 papers

NM_023110.3

p.M1R

c.2T>G