Varaico: Literature-Extracted Genetic Variants

SSRP1

109 papers

RefSeq Summary

The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to ef...

Pfam Domains

POB3_Naa 5–99UCSCPOB3-like N-terminal PH domain

SSrecogaa 106–170UCSCStructure-specific recognition protein (SSRP1)

PH1_SSRP1-likeaa 197–326UCSCSSRP1 PH domain

Rttp106-like_middleaa 339–427UCSCHistone chaperone Rttp106-like, middle domain

HMG_boxaa 547–615UCSCHMG (high mobility group) box

SSRP1_Caa 657–705UCSCFACT complex subunit SSRP1, C-terminal domain

Gene Aliases

HGNC Name

structure specific recognition protein 1

HGNC Alias Symbol

FACT80

Papers

RefSeq ID

Protein change

DNA change

1–12 of 92 variants

2 papers

NM_003146.3

p.D606H

c.1816G>C

2 papers

NM_003146.3

p.E692del1

c.2074_2075delTTC

1 paper

NM_003146.3

p.M1V

c.1A>G

1 paper

NM_003146.3

p.M1T

c.2T>C

1 paper

NM_003146.3

p.L5P

c.14T>C

1 paper

NM_003146.3

p.R24T

c.71G>C

1 paper

NM_003146.3

p.I31N

c.92T>A

1 paper

NM_003146.3

p.K33E

c.97A>G

1 paper

NM_003146.3

p.K33R

c.98A>G

1 paper

NM_003146.3

p.D41A

c.122A>C

1 paper

NM_003146.3

p.W53S

c.158G>C

1 paper

NM_003146.3

p.R54R

c.162C>G