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.F686fs

c.2056_2057fs

Surrounding Variants

1 paper

NM_023110.3

p.F686L

c.2056T>C

1 paper

NM_023110.3

p.F686S

c.2057T>C

1 paper

NM_023110.3

p.F686Y

c.2057T>A

5 papers

NM_023110.3

p.S685F

c.2054C>T

1 paper

NM_023110.3

p.F686L

c.2058C>G

2 papers

NM_023110.3

p.F686fs

c.2056_2057fs

1 paper

NM_023110.3

p.F686L

c.2058C>A

27 papers

NM_023110.3

p.G687R

c.2059G>C

NM_001174063.2

p.G685R

c.2053G>C

27 papers

NM_023110.3

p.G687R

c.2059G>A

NM_001174063.2

p.G685R

c.2053G>A

3 papers

NM_023110.3

p.F686delFs

c.2058delG

1 paper

NM_023110.3

p.G687V

c.2060G>T

1 paper

NM_023110.3

p.W684C

c.2052G>T