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

213 papers

NM_023110.3

p.N546K

c.1638C>G

NM_001174063.2

p.N544K

c.1632C>G

Surrounding Variants

3 papers

NM_023110.3

p.N546N

c.1638C>T

214 papers

NM_023110.3

p.N546K

c.1638C>A

NM_001174063.2

p.N544K

c.1632C>A

NM_015850.4

p.N457K

c.1371C>A

1 paper

NM_023110.3

p.L547L

c.1639C>T

1 paper

NM_023110.3

p.L547V

c.1639C>G

1 paper

NM_023110.3

p.L547M

c.1639C>A

1 paper

NM_023110.3

p.N546I

c.1637A>T

5 papers

NM_023110.3

p.N546S

c.1637A>G

1 paper

NM_023110.3

p.N546T

c.1637A>C

1 paper

NM_023110.3

p.L547R

c.1640T>G

1 paper

NM_023110.3

p.L547P

c.1640T>C

1 paper

NM_023110.3

p.L547Q

c.1640T>A

1 paper

NM_023110.3

p.N546Y

c.1636A>T