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

7 papers

NM_023110.3

p.A604T

c.1810G>A

Surrounding Variants

1 paper

NM_023110.3

p.A604S

c.1810G>T

2 papers

NM_023110.3

p.A604P

c.1810G>C

1 paper

NM_023110.3

p.A604V

c.1811C>T

1 paper

NM_023110.3

p.A604G

c.1811C>G

1 paper

NM_023110.3

p.C603W

c.1809C>G

1 paper

NM_023110.3

p.C603_A604insFs

c.1809_1810insTC

4 papers

NM_023110.3

p.C603*

c.1809C>A

1 paper

NM_023110.3

p.A604D

c.1811C>A

1 paper

NM_023110.3

p.C603F

c.1808G>T

1 paper

NM_023110.3

p.C603S

c.1808G>C

1 paper

NM_023110.3

p.C603Y

c.1808G>A

1 paper

NM_023110.3

p.A604A

c.1812C>T