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.K5*

c.13A>T

Surrounding Variants

4 papers

NM_023110.3

p.W4C

c.12G>T

21 papers

NM_023110.3

p.W4C

c.12G>C

22 papers

NM_023110.3

p.W4*

c.12G>A

1 paper

NM_023110.3

p.K5N

c.15G>C

3 papers

NM_023110.3

p.W4*

c.11G>A

1 paper

NM_023110.3

p.C6Y

c.17G>A

2 papers

NM_023110.3

p.S3I

c.8G>T

1 paper

NM_023110.3

p.S3N

c.8G>A

2 papers

NM_023110.3

p.L7insFs

c.19_20insA

2 papers

NM_023110.3

p.W2delFs

c.6delC

7 papers

NM_023110.3

p.L7R

c.20T>G

1 paper

NM_023110.3

p.L7P

c.20T>C